VCV000037346.106 - ClinVar

NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)

Germline

Top reviewed classifications are shown here.

Submission summary:

25 submissions

11 submitters

20 conditions

Reviewed by expert panel

Drug response

Apr 2021 by PharmGKB

for atorvastatin response - Toxicity

Drug response

Mar 2021 by PharmGKB

for simvastatin acid response - Metabolism/PK

Drug response

Apr 2021 by PharmGKB

for simvastatin response - Toxicity

Drug response

Mar 2021 by PharmGKB

for hmg coa reductase inhibitors response - Toxicity

Drug response

Mar 2021 by PharmGKB

for rosuvastatin response - Metabolism/PK

Drug response

Feb 2022 by PharmGKB

for fluvastatin response - Toxicity

Drug response

Feb 2022 by PharmGKB

for fluvastatin response - Metabolism/PK

Drug response

Feb 2022 by PharmGKB

for lovastatin response - Toxicity

Drug response

Feb 2022 by PharmGKB

for lovastatin acid response - Metabolism/PK

Drug response

Feb 2022 by PharmGKB

for rosuvastatin response - Toxicity

Drug response

Feb 2022 by PharmGKB

for pitavastatin response - Metabolism/PK

Drug response

Feb 2022 by PharmGKB

for simvastatin response - Metabolism/PK

Drug response

Feb 2022 by PharmGKB

for pravastatin response - Toxicity

Drug response

Feb 2022 by PharmGKB

for lovastatin response - Metabolism/PK

Drug response

Feb 2022 by PharmGKB

for atorvastatin response - Metabolism/PK

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)

Variation ID: 37346 Accession: VCV000037346.106

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 12p12.1 12: 21178615 (GRCh38) [ NCBI UCSC ] 12: 21331549 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	May 22, 2016	Oct 8, 2024	Feb 15, 2022

HGVS

Nucleotide	Protein	Molecular consequence
NM_006446.5:c.521T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_006437.3:p.Val174Ala	missense
NC_000012.12:g.21178615T>C
NC_000012.11:g.21331549T>C
NG_011745.1:g.52422T>C
LRG_1022:g.52422T>C
LRG_1022t1:c.521T>C
	Q9Y6L6:p.Val174Ala

... more HGVS ... less HGVS

Protein change

V174A

Other names

SLCO1B1, p.V174A
c.521T>C

Canonical SPDI

NC_000012.12:21178614:T:C

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

0.08766 (C)

Allele frequency Help The frequency of the allele represented by this VCV record.

1000 Genomes Project 30x 0.08292

1000 Genomes Project 0.08766

Trans-Omics for Precision Medicine (TOPMed) 0.11109

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.11495

The Genome Aggregation Database (gnomAD) 0.12106

Exome Aggregation Consortium (ExAC) 0.12943

The Genome Aggregation Database (gnomAD), exomes 0.13288

Links

PharmGKB Clinical Annotation: 655384011 PharmGKB Clinical Annotation: 981344897 PharmGKB Clinical Annotation: 981345293 PharmGKB Clinical Annotation: 981345350 PharmGKB Clinical Annotation: 981345382 ClinGen: CA6476722 Genetic Testing Registry (GTR): GTR000509024 Genetic Testing Registry (GTR): GTR000569522 Genetic Testing Registry (GTR): GTR000593363 Genetic Testing Registry (GTR): GTR000613302 UniProtKB: Q9Y6L6#VAR_015076 dbSNP: rs4149056 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
SLCO1B1		-	-	GRCh38 GRCh37	176	233

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Rotor syndrome	Benign (3)	criteria provided, multiple submitters, no conflicts	Nov 30, 2023	RCV000311457.26
not provided	Benign; other (2)	criteria provided, multiple submitters, no conflicts	Mar 14, 2018	RCV000325818.15
rosuvastatin response - Metabolism/PK	drug response (1)	reviewed by expert panel	Mar 24, 2021	RCV001787324.11
Gilbert syndrome	Pathogenic (1)	no assertion criteria provided	May 1, 2019	RCV000999565.11
simvastatin acid response - Metabolism/PK	drug response (1)	reviewed by expert panel	Mar 24, 2021	RCV000660832.13
atorvastatin response - Metabolism/PK	drug response (1)	reviewed by expert panel	Feb 15, 2022	RCV001787819.10
simvastatin response - Toxicity	drug response (1)	reviewed by expert panel	Apr 7, 2021	RCV001787325.10
hmg coa reductase inhibitors response - Toxicity	drug response (1)	reviewed by expert panel	Mar 24, 2021	RCV001787333.11
atorvastatin response - Toxicity	drug response (1)	reviewed by expert panel	Apr 7, 2021	RCV001787820.10
fluvastatin response - Metabolism/PK	drug response (1)	reviewed by expert panel	Feb 10, 2022	RCV003227613.8
fluvastatin response - Toxicity	drug response (1)	reviewed by expert panel	Feb 10, 2022	RCV003227614.9
lovastatin acid response - Metabolism/PK	drug response (1)	reviewed by expert panel	Feb 10, 2022	RCV003227615.8
lovastatin response - Metabolism/PK	drug response (1)	reviewed by expert panel	Feb 10, 2022	RCV003227616.8
pitavastatin response - Metabolism/PK	drug response (1)	reviewed by expert panel	Feb 15, 2022	RCV003227618.8
rosuvastatin response - Toxicity	drug response (1)	reviewed by expert panel	Feb 10, 2022	RCV003227620.9
not specified	Benign (3)	no assertion criteria provided	-	RCV001705611.13
lovastatin response - Toxicity	drug response (1)	reviewed by expert panel	Feb 15, 2022	RCV003227617.9
pravastatin response - Toxicity	drug response (1)	reviewed by expert panel	Feb 15, 2022	RCV003227619.9
simvastatin response - Metabolism/PK	drug response (1)	reviewed by expert panel	Feb 14, 2022	RCV003227621.8
SLCO1B1-related disorder	Likely benign (1)	no assertion criteria provided	Jul 21, 2021	RCV003982852.2
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Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
drug response Drug-variant association: Toxicity (Apr 07, 2021)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	atorvastatin response - Toxicity Drug used for statin-related myopathy Affected status: yes Allele origin: germline	PharmGKB Accession: SCV002031255.1 First in ClinVar: Dec 12, 2021 Last updated: Dec 12, 2021 Comment: Drug is not necessarily used to treat response condition	Publications: PubMed (11) PubMed: 19833260‚ 21243006‚ 21928084‚ 23942138‚ 26086347‚ 27839692‚ 28812116‚ 28940218‚ 30595243‚ 32128760‚ 32453264 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/1043880818 Comment: PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more) PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C93, HLA-B57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
drug response Drug-variant association: Metabolism/PK (Mar 24, 2021)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	simvastatin acid response - Metabolism/PK Affected status: yes Allele origin: germline	PharmGKB Accession: SCV000783071.2 First in ClinVar: Jul 09, 2018 Last updated: Dec 12, 2021	Publications: PubMed (9) PubMed: 17108811‚ 24598718‚ 25446771‚ 25673568‚ 26164721‚ 26367500‚ 26774055‚ 28350522‚ 29469964 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/1449556772 Comment: PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in … (more) PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications. (less)
drug response Drug-variant association: Toxicity (Apr 07, 2021)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	simvastatin response - Toxicity Drug used for statin-related myopathy Affected status: yes Allele origin: germline	PharmGKB Accession: SCV000268326.4 First in ClinVar: May 22, 2016 Last updated: Dec 12, 2021 Comment: Drug is not necessarily used to treat response condition	Publications: PubMed (9) PubMed: 18650507‚ 19833260‚ 21243006‚ 23942138‚ 24263182‚ 27839692‚ 28812116‚ 28940218‚ 29242847 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/655384011 Comment: PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more) PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C93, HLA-B57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
drug response Drug-variant association: Toxicity (Mar 24, 2021)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	hmg coa reductase inhibitors response - Toxicity Drug used for statin-related myopathy Affected status: yes Allele origin: germline	PharmGKB Accession: SCV000494712.3 First in ClinVar: Feb 19, 2017 Last updated: Dec 12, 2021 Comment: Drug is not necessarily used to treat response condition	Publications: PubMed (9) PubMed: 21178985‚ 23942138‚ 27595674‚ 27839692‚ 29785580‚ 30250148‚ 31220337‚ 31242253‚ 31967516 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/981345382 Comment: PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in … (more) PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications. (less)
drug response Drug-variant association: Metabolism/PK (Mar 24, 2021)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	rosuvastatin response - Metabolism/PK Drug used for Hypercholesterolemia Affected status: yes Allele origin: germline	PharmGKB Accession: SCV000268328.4 First in ClinVar: May 22, 2016 Last updated: Dec 12, 2021 Comment: Drug is not necessarily used to treat response condition	Publications: PubMed (13) PubMed: 16198652‚ 17473846‚ 17568401‚ 23876492‚ 23930675‚ 25630984‚ 25673568‚ 27557342‚ 29950617‚ 30528195‚ 31857620‚ 31981411‚ 32361904 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/981345350 Comment: PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in … (more) PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications. (less)
drug response Drug-variant association: Toxicity (Feb 10, 2022)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	fluvastatin response - Toxicity Drug used for statin-related myopathy Affected status: yes Allele origin: germline	PharmGKB Accession: SCV003925512.1 First in ClinVar: May 20, 2023 Last updated: May 20, 2023 Comment: Drug is not necessarily used to treat response condition	Publications: PubMed (2) PubMed: 23942138‚ 27839692 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/1451244720 Comment: PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more) PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C93, HLA-B57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
drug response (Feb 10, 2022)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	fluvastatin response - Metabolism/PK Affected status: yes Allele origin: germline	PharmGKB Accession: SCV003925511.1 First in ClinVar: May 20, 2023 Last updated: May 20, 2023	Publications: PubMed (2) PubMed: 17015053‚ 30989645 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/1451244700 Comment: PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more) PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C93, HLA-B57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
drug response Drug-variant association: Toxicity (Feb 15, 2022)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	lovastatin response - Toxicity Drug used for statin-related myopathy Affected status: yes Allele origin: germline	PharmGKB Accession: SCV003925516.1 First in ClinVar: May 20, 2023 Last updated: May 20, 2023 Comment: Drug is not necessarily used to treat response condition	Publications: PubMed (1) PubMed: 34114646 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/1451465324 Comment: PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more) PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C93, HLA-B57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
drug response (Feb 10, 2022)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	lovastatin acid response - Metabolism/PK Affected status: yes Allele origin: germline	PharmGKB Accession: SCV003925513.1 First in ClinVar: May 20, 2023 Last updated: May 20, 2023	Publications: PubMed (2) PubMed: 26020121‚ 27967318 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/1451678112 Comment: PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more) PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C93, HLA-B57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
drug response Drug-variant association: Toxicity (Feb 10, 2022)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	rosuvastatin response - Toxicity Drug used for statin-related myopathy Affected status: yes Allele origin: germline	PharmGKB Accession: SCV003925519.1 First in ClinVar: May 20, 2023 Last updated: May 20, 2023 Comment: Drug is not necessarily used to treat response condition	Publications: PubMed (8) PubMed: 20347093‚ 23708174‚ 23942138‚ 27839692‚ 28812116‚ 29950617‚ 30250148‚ 30595243 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/1451357200 Comment: PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more) PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C93, HLA-B57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
drug response (Feb 15, 2022)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	pitavastatin response - Metabolism/PK Affected status: yes Allele origin: germline	PharmGKB Accession: SCV003925517.1 First in ClinVar: May 20, 2023 Last updated: May 20, 2023	Publications: PubMed (2) PubMed: 17460607‚ 23556337 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/1451678210 Comment: PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more) PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C93, HLA-B57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
drug response (Feb 14, 2022)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	simvastatin response - Metabolism/PK Affected status: yes Allele origin: germline	PharmGKB Accession: SCV003925520.1 First in ClinVar: May 20, 2023 Last updated: May 20, 2023	Publications: PubMed (9) PubMed: 17108811‚ 24598718‚ 25446771‚ 25673568‚ 26164721‚ 26367500‚ 26774055‚ 28350522‚ 29469964 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/1449556772 Comment: PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more) PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C93, HLA-B57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
drug response Drug-variant association: Toxicity (Feb 15, 2022)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	pravastatin response - Toxicity Drug used for statin-related myopathy Affected status: yes Allele origin: germline	PharmGKB Accession: SCV003925518.1 First in ClinVar: May 20, 2023 Last updated: May 20, 2023 Comment: Drug is not necessarily used to treat response condition	Publications: PubMed (3) PubMed: 19833260‚ 23942138‚ 27839692 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/1451244740 Comment: PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more) PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C93, HLA-B57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
drug response (Feb 10, 2022)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	lovastatin response - Metabolism/PK Affected status: yes Allele origin: germline	PharmGKB Accession: SCV003925515.1 First in ClinVar: May 20, 2023 Last updated: May 20, 2023	Publications: PubMed (2) PubMed: 26020121‚ 27967318 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/1451678112 Comment: PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more) PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C93, HLA-B57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
drug response (Feb 15, 2022)	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine) Method: curation	atorvastatin response - Metabolism/PK Affected status: yes Allele origin: germline	PharmGKB Accession: SCV002031254.2 First in ClinVar: Dec 12, 2021 Last updated: Nov 04, 2023	Publications: PubMed (17) PubMed: 15970799‚ 17473846‚ 19374892‚ 20040338‚ 23361102‚ 23876492‚ 25673568‚ 26373210‚ 26857559‚ 28435225‚ 29039339‚ 29442027‚ 30528195‚ 31594719‚ 32128760‚ 33805706‚ 35034348 Other databases https://www.pharmgkb.org/variant… https://www.pharmgkb.org/variant/PA166154579 https://www.pharmgkb.org/clinica… https://www.pharmgkb.org/clinicalAnnotation/1451244800 Comment: PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more) PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C93, HLA-B57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
other (Jul 22, 2015)	criteria provided, single submitter (EGL Classification Definitions 2015) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Eurofins Ntd Llc (ga) Accession: SCV000331343.3 First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016	Other databases http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SLCO1B1 Number of individuals with the variant: 116 Sex: mixed
Benign (Mar 14, 2018)	criteria provided, single submitter (GeneDx Variant Classification (06012015)) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000977587.1 First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019	Comment: This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more) This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
Benign (Mar 06, 2018)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Rotor syndrome Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000377358.3 First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020	Comment: This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more) This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
Benign (Nov 30, 2023)	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024) Method: clinical testing	Rotor syndrome Affected status: unknown Allele origin: germline	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories Accession: SCV000605180.8 First in ClinVar: Sep 30, 2017 Last updated: Feb 20, 2024
Benign (-)	no assertion criteria provided Method: clinical testing	Rotor syndrome Affected status: yes Allele origin: germline	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV000733149.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018
Benign (-)	no assertion criteria provided Method: clinical testing	not specified Affected status: yes Allele origin: germline	Genome Diagnostics Laboratory, University Medical Center Utrecht Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001978021.1 First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021
Likely benign (Jul 21, 2021)	no assertion criteria provided Method: clinical testing	SLCO1B1-related condition Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV004796071.2 First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024	Comment: This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Pathogenic (May 01, 2019)	no assertion criteria provided Method: case-control	Gilbert syndrome Affected status: yes Allele origin: inherited	Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University Accession: SCV001156261.1 First in ClinVar: Feb 10, 2020 Last updated: Feb 10, 2020	Number of individuals with the variant: 58 Age: 25-55 years Sex: mixed Ethnicity/Population group: Chinese
Benign (-)	no assertion criteria provided Method: clinical testing	not specified Affected status: yes Allele origin: germline	Clinical Genetics, Academic Medical Center Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001918782.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021
Benign (-)	no assertion criteria provided Method: clinical testing	not specified Affected status: yes Allele origin: germline	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001951542.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021
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Comment:

PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.

Comment:

PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications.

Comment:

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

Comment:

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
SLCO1B1*5 Allele Is Associated With Atorvastatin Discontinuation and Adverse Muscle Symptoms in the Context of Routine Care.	Voora D	Clinical pharmacology and therapeutics	2022	PMID: 35034348
Effect of SLCO1B1 T521C on Statin-Related Myotoxicity With Use of Lovastatin and Atorvastatin.	Lu B	Clinical pharmacology and therapeutics	2021	PMID: 34114646
SLCO1B1 Phenotype and CYP3A5 Polymorphism Significantly Affect Atorvastatin Bioavailability.	Zubiaur P	Journal of personalized medicine	2021	PMID: 33805706
Association of SLCO1B1 c.521T>C (rs4149056) with discontinuation of atorvastatin due to statin-associated muscle symptoms.	Linskey DW	Pharmacogenetics and genomics	2020	PMID: 32453264
Effects of ABCG2 and SLCO1B1 gene variants on inflammation markers in patients with hypercholesterolemia and diabetes mellitus treated with rosuvastatin.	Zhang D	European journal of clinical pharmacology	2020	PMID: 32361904
A Genome-wide Association Study of Circulating Levels of Atorvastatin and Its Major Metabolites.	Turner RM	Clinical pharmacology and therapeutics	2020	PMID: 32128760
Impact of SLCO1B1 Genetic Variation on Rosuvastatin Systemic Exposure in Pediatric Hypercholesterolemia.	Wagner JB	Clinical and translational science	2020	PMID: 31981411
Association between rs4149056 variant in SLCO1B1 and early discontinuation of statin after acute myocardial infarction.	Al-Salameh A	Pharmacogenomics	2020	PMID: 31967516
Influence of OATP1B1 and BCRP polymorphisms on the pharmacokinetics and pharmacodynamics of rosuvastatin in elderly and young Korean subjects.	Kim Y	Scientific reports	2019	PMID: 31857620
Microdosing clinical study to clarify pharmacokinetic and pharmacogenetic characteristics of atorvastatin in Japanese hypercholesterolemic patients.	Lee N	Drug metabolism and pharmacokinetics	2019	PMID: 31594719
Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing.	Floyd JS	PloS one	2019	PMID: 31242253
Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.	Carr DF	Clinical pharmacology and therapeutics	2019	PMID: 31220337
Enantiospecific Pharmacogenomics of Fluvastatin.	Hirvensalo P	Clinical pharmacology and therapeutics	2019	PMID: 30989645
Effect of OATP1B1 genotypes on plasma concentrations of endogenous OATP1B1 substrates and drugs, and their association in healthy volunteers.	Mori D	Drug metabolism and pharmacokinetics	2019	PMID: 30528195
Effects of SLCO1B1 and GATM gene variants on rosuvastatin-induced myopathy are unrelated to high plasma exposure of rosuvastatin and its metabolites.	Bai X	Acta pharmacologica Sinica	2019	PMID: 29950617
Impact of pharmacogenetics on statin-induced myopathy in South-Indian subjects.	Ramakumari N	Indian heart journal	2018	PMID: 30595243
Association between SLCO1B1 T521C polymorphism and risk of statin-induced myopathy: a meta-analysis.	Xiang Q	The pharmacogenomics journal	2018	PMID: 30250148
A comprehensive review and meta-analysis of risk factors for statin-induced myopathy.	Nguyen KA	European journal of clinical pharmacology	2018	PMID: 29785580
Impact of SLCO1B1 Genotype on Pediatric Simvastatin Acid Pharmacokinetics.	Wagner JB	Journal of clinical pharmacology	2018	PMID: 29469964
Genetic and Clinical Factors Are Associated With Statin-Related Myotoxicity of Moderate Severity: A Case-Control Study.	Bakar NS	Clinical pharmacology and therapeutics	2018	PMID: 28940218
The effect of SLCO1B1 polymorphism on the pharmacokinetics of atorvastatin and 2-hydroxyatorvastatin in healthy Chinese people.	Wang Y	Die Pharmazie	2017	PMID: 29442027
Simvastatin intolerance genetic determinants: some features in ethnic Uzbek patients with coronary artery disease.	Shek AB	Archives of medical sciences. Atherosclerotic diseases	2017	PMID: 29242847
Effects of two functionally important SLCO1B1 gene polymorphisms on pharmacokinetics of atorvastatin.	Rajput TA	Pakistan journal of pharmaceutical sciences	2017	PMID: 29039339
SLCO1B1 521T > C polymorphism associated with rosuvastatin-induced myotoxicity in Chinese coronary artery disease patients: a nested case-control study.	Liu JE	European journal of clinical pharmacology	2017	PMID: 28812116
Association of genetic variations with pharmacokinetics and lipid-lowering response to atorvastatin in healthy Korean subjects.	Woo HI	Drug design, development and therapy	2017	PMID: 28435225
The influences of SLCO1B1 and ABCB1 genotypes on the pharmacokinetics of simvastatin, in relation to CYP3A4 inhibition.	Jiang F	Pharmacogenomics	2017	PMID: 28350522
Effect of polymorphisms in CYP3A4, PPARA, NR1I2, NFKB1, ABCG2 and SLCO1B1 on the pharmacokinetics of lovastatin in healthy Chinese volunteers.	Zhao G	Pharmacogenomics	2017	PMID: 27967318
A possible role for HLA-DRB1*04:06 in statin-related myopathy in Japanese patients.	Sai K	Drug metabolism and pharmacokinetics	2016	PMID: 27839692
Statin-associated muscle symptoms and SLCO1B1 rs4149056 genotype in patients with familial hypercholesterolemia.	Khine H	American heart journal	2016	PMID: 27595674
Effects of Polymorphisms in NR1H4, NR1I2, SLCO1B1, and ABCG2 on the Pharmacokinetics of Rosuvastatin in Healthy Chinese Volunteers.	Liu M	Journal of cardiovascular pharmacology	2016	PMID: 27557342
A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers.	León-Cachón RBR	BMC cancer	2016	PMID: 26857559
Absence of ethnic differences in the pharmacokinetics of moxifloxacin, simvastatin, and meloxicam among three East Asian populations and Caucasians.	Hasunuma T	British journal of clinical pharmacology	2016	PMID: 26774055
Effects of single nucleotide polymorphisms and haplotypes of the SLCO1B1 gene on the pharmacokinetic profile of atorvastatin in healthy Macedonian volunteers.	Daka A	Die Pharmazie	2015	PMID: 26373210
Impact of CYP2D6, CYP3A5, CYP2C19, CYP2A6, SLCO1B1, ABCB1, and ABCG2 gene polymorphisms on the pharmacokinetics of simvastatin and simvastatin acid.	Choi HY	Pharmacogenetics and genomics	2015	PMID: 26367500
Individual and Combined Associations of Genetic Variants in CYP3A4, CYP3A5, and SLCO1B1 With Simvastatin and Simvastatin Acid Plasma Concentrations.	Luzum JA	Journal of cardiovascular pharmacology	2015	PMID: 26164721
ABCG2 gene polymorphisms as risk factors for atorvastatin adverse reactions: a case-control study.	Mirošević Skvrce N	Pharmacogenomics	2015	PMID: 26086347
SLCO1B1 polymorphism markedly affects the pharmacokinetics of lovastatin acid.	Tornio A	Pharmacogenetics and genomics	2015	PMID: 26020121
Impact of ABCG2 and SLCO1B1 polymorphisms on pharmacokinetics of rosuvastatin, atorvastatin and simvastatin acid in Caucasian and Asian subjects: a class effect?	Birmingham BK	European journal of clinical pharmacology	2015	PMID: 25673568
Rosuvastatin pharmacokinetics and pharmacogenetics in Caucasian and Asian subjects residing in the United States.	Birmingham BK	European journal of clinical pharmacology	2015	PMID: 25630984
Development and Application of a Mechanistic Pharmacokinetic Model for Simvastatin and its Active Metabolite Simvastatin Acid Using an Integrated Population PBPK Approach.	Tsamandouras N	Pharmaceutical research	2015	PMID: 25446771
Identification of the effect of multiple polymorphisms on the pharmacokinetics of simvastatin and simvastatin acid using a population-modeling approach.	Tsamandouras N	Clinical pharmacology and therapeutics	2014	PMID: 24598718
The SLCO1B1 c.521T>C polymorphism is associated with dose decrease or switching during statin therapy in the Rotterdam Study.	de Keyser CE	Pharmacogenetics and genomics	2014	PMID: 24263182
SLCO1B1 genetic variant associated with statin-induced myopathy: a proof-of-concept study using the clinical practice research datalink.	Carr DF	Clinical pharmacology and therapeutics	2013	PMID: 23942138
Effects of polymorphisms in ABCG2, SLCO1B1, SLC10A1 and CYP2C9/19 on plasma concentrations of rosuvastatin and lipid response in Chinese patients.	Lee HK	Pharmacogenomics	2013	PMID: 23930675
Clinical and pharmacogenetic predictors of circulating atorvastatin and rosuvastatin concentrations in routine clinical care.	DeGorter MK	Circulation. Cardiovascular genetics	2013	PMID: 23876492
Lack of association between SLCO1B1 polymorphisms and clinical myalgia following rosuvastatin therapy.	Danik JS	American heart journal	2013	PMID: 23708174
CYP2C9*3(1075A > C), ABCB1 and SLCO1B1 genetic polymorphisms and gender are determinants of inter-subject variability in pitavastatin pharmacokinetics.	Zhou Q	Die Pharmazie	2013	PMID: 23556337
Impact of OATP1B1, MDR1, and CYP3A4 expression in liver and intestine on interpatient pharmacokinetic variability of atorvastatin in obese subjects.	Ulvestad M	Clinical pharmacology and therapeutics	2013	PMID: 23361102
SLCO1B1 haplotypes are not associated with atorvastatin-induced myalgia in Brazilian patients with familial hypercholesterolemia.	Santos PC	European journal of clinical pharmacology	2012	PMID: 21928084
Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin.	Brunham LR	The pharmacogenomics journal	2012	PMID: 21243006
Common nonsynonymous substitutions in SLCO1B1 predispose to statin intolerance in routinely treated individuals with type 2 diabetes: a go-DARTS study.	Donnelly LA	Clinical pharmacology and therapeutics	2011	PMID: 21178985
Genetic involvement in statins induced myopathy. Preliminary data from an observational case-control study.	Puccetti L	Atherosclerosis	2010	PMID: 20347093
Effects of SLCO1B1 and ABCB1 genotypes on the pharmacokinetics of atorvastatin and 2-hydroxyatorvastatin in healthy Korean subjects.	Lee YJ	International journal of clinical pharmacology and therapeutics	2010	PMID: 20040338
The SLCO1B1*5 genetic variant is associated with statin-induced side effects.	Voora D	Journal of the American College of Cardiology	2009	PMID: 19833260
Rifampicin alters atorvastatin plasma concentration on the basis of SLCO1B1 521T>C polymorphism.	He YJ	Clinica chimica acta; international journal of clinical chemistry	2009	PMID: 19374892
SLCO1B1 variants and statin-induced myopathy--a genomewide study.	SEARCH Collaborative Group	The New England journal of medicine	2008	PMID: 18650507
Influence of OATP1B1 genotype on the pharmacokinetics of rosuvastatin in Koreans.	Choi JH	Clinical pharmacology and therapeutics	2008	PMID: 17568401
Different effects of SLCO1B1 polymorphism on the pharmacokinetics of atorvastatin and rosuvastatin.	Pasanen MK	Clinical pharmacology and therapeutics	2007	PMID: 17473846
SLCO1B1 (OATP1B1, an uptake transporter) and ABCG2 (BCRP, an efflux transporter) variant alleles and pharmacokinetics of pitavastatin in healthy volunteers.	Ieiri I	Clinical pharmacology and therapeutics	2007	PMID: 17460607
SLCO1B1 polymorphism markedly affects the pharmacokinetics of simvastatin acid.	Pasanen MK	Pharmacogenetics and genomics	2006	PMID: 17108811
SLCO1B1 polymorphism and sex affect the pharmacokinetics of pravastatin but not fluvastatin.	Niemi M	Clinical pharmacology and therapeutics	2006	PMID: 17015053
Rosuvastatin pharmacokinetics and pharmacogenetics in white and Asian subjects residing in the same environment.	Lee E	Clinical pharmacology and therapeutics	2005	PMID: 16198652
Functional characterization of SLCO1B1 (OATP-C) variants, SLCO1B15, SLCO1B115 and SLCO1B1*15+C1007G, by using transient expression systems of HeLa and HEK293 cells.	Kameyama Y	Pharmacogenetics and genomics	2005	PMID: 15970799
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SLCO1B1	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/1043880818	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/1449556772	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/1451244700	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/1451244720	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/1451244740	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/1451244800	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/1451357200	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/1451465324	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/1451678112	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/1451678210	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/655384011	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/981345350	-	-	-	-
https://www.pharmgkb.org/clinicalAnnotation/981345382	-	-	-	-
https://www.pharmgkb.org/variant/PA166154579	-	-	-	-
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Text-mined citations for rs4149056 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 25, 2024

ClinVar Genomic variation as it relates to human health

NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs4149056 ...