VCV000189243.58 - ClinVar

NM_000231.3(SGCG):c.525del (p.Phe175fs)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(18)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic/Likely pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000231.3(SGCG):c.525del (p.Phe175fs)

Variation ID: 189243 Accession: VCV000189243.58

Type and length

Deletion, 1 bp

Location

Cytogenetic: 13q12.12 13: 23295430 (GRCh38) [ NCBI UCSC ] 13: 23869569 (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	Apr 1, 2015	Oct 20, 2024	Mar 26, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_000231.3:c.525del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000222.2:p.Phe175fs	frameshift
NM_000231.2:c.525delT
NM_001378244.1:c.579del	NP_001365173.1:p.Phe193fs	frameshift
NM_001378245.1:c.525del	NP_001365174.1:p.Phe175fs	frameshift
NM_001378246.1:c.525del	NP_001365175.1:p.Phe175fs	frameshift
NC_000013.11:g.23295434del
NC_000013.10:g.23869573del
NG_008759.1:g.119514del
LRG_207:g.119514del

... more HGVS ... less HGVS

Protein change

F193fs

Other names

Canonical SPDI

NC_000013.11:23295429:TTTTT:TTTT

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.

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

Links

ClinGen: CA346837 LOVD 3: SGCG_000001 OMIM: 608896.0001 dbSNP: rs786204786 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.
SGCG		-	-	GRCh38 GRCh37	550	661

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.
Autosomal recessive limb-girdle muscular dystrophy type 2C	Pathogenic (13)	criteria provided, multiple submitters, no conflicts	Mar 26, 2024	RCV000169675.36
not provided	Pathogenic (4)	criteria provided, multiple submitters, no conflicts	Dec 29, 2021	RCV000713258.33
SGCG-related congenital myopathy	Likely pathogenic (1)	criteria provided, single submitter	Mar 1, 2024	RCV004586589.1

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.
Pathogenic (Sep 15, 2014)	criteria provided, single submitter (LMM Criteria) Method: clinical testing	Limb girdle muscular dystrophy type 2C (Autosomal recessive inheritance) Affected status: not provided Allele origin: germline	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine Study: CSER-MedSeq Accession: SCV000221211.2 First in ClinVar: Apr 01, 2015 Last updated: Apr 01, 2015	Publications: PubMed (5) PubMed: 20623375‚ 22240777‚ 23929688‚ 24552312‚ 7481775 Comment: The Phe175LeufsX20 variant in SGCG has been reported in many individuals with limb girdle muscular dystrophy type 2C (LGMD2C; Noguchi 1995, Boyden 2010, Herson 2012, … (more) The Phe175LeufsX20 variant in SGCG has been reported in many individuals with limb girdle muscular dystrophy type 2C (LGMD2C; Noguchi 1995, Boyden 2010, Herson 2012, Schroder 2014, El Kerch 2014). Data from large population studies is insufficient to assess the frequency of this variant. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 175 and leads to a premature termination codon 20 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Complete loss of SGCG function is an established disease mechanism in LGMD2C. In summary, this variant meets our criteria to be classified as pathogenic for LGMD2C in an autosomal recessive manner. (less) Number of individuals with the variant: 1
Pathogenic (Dec 19, 2014)	criteria provided, single submitter (Athena Diagnostics Criteria) Method: clinical testing	not provided Affected status: unknown Allele origin: unknown	Athena Diagnostics Accession: SCV000843846.2 First in ClinVar: Oct 20, 2018 Last updated: Jan 26, 2021	Publications: PubMed (3) PubMed: 10942431‚ 22240777‚ 23929688 Comment: The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. The frequency … (more) The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity. Found in multiple individuals with expected phenotype for this gene. (less)
Pathogenic (Jul 08, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autosomal recessive limb-girdle muscular dystrophy type 2C Affected status: unknown Allele origin: unknown	Fulgent Genetics, Fulgent Genetics Accession: SCV002789251.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022
Pathogenic (Dec 29, 2021)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV001792557.3 First in ClinVar: Aug 21, 2021 Last updated: Mar 04, 2023	Comment: Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more) Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11693784, 18285821, 22367371, 17994539, 16832103, 23929688, 7481775, 16616845, 15954112, 14678800, 26404900, 25252238, 16916601, 22240777, 24552312, 12040521, 27759885, 30919934, 31130284, 31980526, 31127727, 8900232, 20623375, 19770540, 10942431, 32214227, 25214167, 32528171, 31589614) (less)
Pathogenic (Jun 30, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autosomal recessive limb-girdle muscular dystrophy type 2C Affected status: unknown Allele origin: germline	Revvity Omics, Revvity Accession: SCV002021240.3 First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024
Pathogenic (Mar 26, 2024)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autosomal recessive limb-girdle muscular dystrophy type 2C Affected status: unknown Allele origin: germline	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center Accession: SCV004806503.1 First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024
Likely pathogenic (Mar 01, 2024)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	SGCG-related congenital myopathy Affected status: yes Allele origin: biparental	Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire Accession: SCV005038501.1 First in ClinVar: Jul 15, 2024 Last updated: Jul 15, 2024	Publications: DOI: 10.1186/s13073-024-01353-0 DOI: 10.1186/s13073-024-01353-0 Comment: PVS1+PM2 Number of individuals with the variant: 1 Sex: male
Pathogenic (Mar 14, 2024)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autosomal recessive limb-girdle muscular dystrophy type 2C Affected status: unknown Allele origin: unknown	Baylor Genetics Accession: SCV004201034.2 First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024
Pathogenic (Sep 01, 2016)	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) Method: clinical testing	not provided Affected status: yes Allele origin: germline	CeGaT Center for Human Genetics Tuebingen Accession: SCV001245659.26 First in ClinVar: May 12, 2020 Last updated: Oct 20, 2024	Number of individuals with the variant: 1
Pathogenic (Aug 26, 2016)	criteria provided, single submitter (EGL Classification Definitions 2015) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Eurofins Ntd Llc (ga) Accession: SCV000331677.4 First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018	Publications: PubMed (1) PubMed: 24552312 Other databases http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SGCG Number of individuals with the variant: 11 Sex: mixed
Pathogenic (Dec 03, 2018)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	Autosomal recessive limb-girdle muscular dystrophy type 2C (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard Accession: SCV001164546.1 First in ClinVar: Mar 01, 2020 Last updated: Mar 01, 2020	Comment: The homozygous p.Phe175LeufsTer20 variant in SGCG was identified by our study in five individuals (four siblings and one unrelated individual) with limb-girdle muscular dystrophy (LGMD). … (more) The homozygous p.Phe175LeufsTer20 variant in SGCG was identified by our study in five individuals (four siblings and one unrelated individual) with limb-girdle muscular dystrophy (LGMD). This variant has been identified in 0.006092% (15/246240) of chromosomes in the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs765500509). Although this variant has been seen in the general population, the frequency is low enough to be consistent with a recessive carrier frequency. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at position 175 and leads to a premature termination codon 20 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the SGCG gene is an established disease mechanism in autosomal recessive LGMD. This variant has also been reported in ClinVar (Variation ID: 189243). In summary, this variant meets criteria to be classified as pathogenic for LGMD in an autosomal recessive manner based on the predicted impact of the variant and multiple reports in ClinVar. ACMG/AMP Criteria applied: PM2, PVS1, PP1 (Richards 2015). (less)
Pathogenic (May 22, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autosomal recessive limb-girdle muscular dystrophy type 2C Affected status: yes Allele origin: germline	3billion Accession: SCV002521573.1 First in ClinVar: Jun 03, 2022 Last updated: Jun 03, 2022	Publications: PubMed (1) PubMed: 7481775 Comment: The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.006%). Frameshift: predicted to result in a loss … (more) The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.006%). Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000189243 / PMID: 7481775). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less) Clinical Features: Proximal muscle weakness (present) , Urinary incontinence (present) , Inability to walk (present) , EMG: myopathic abnormalities (present)
Pathogenic (Nov 30, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autosomal recessive limb-girdle muscular dystrophy type 2C Affected status: yes Allele origin: germline	MGZ Medical Genetics Center Accession: SCV002579640.1 First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 Comment: ACMG criteria applied: PVS1, PS4_MOD, PM3, PM2_SUP, PP1	Number of individuals with the variant: 1 Sex: male
Pathogenic (Jan 25, 2024)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Autosomal recessive limb-girdle muscular dystrophy type 2C Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000634388.7 First in ClinVar: Dec 26, 2017 Last updated: Feb 28, 2024	Publications: PubMed (6) PubMed: 18285821‚ 7481775‚ 12040521‚ 22240777‚ 23929688‚ 24552312 Comment: This sequence change creates a premature translational stop signal (p.Phe175Leufs20) in the SGCG gene. It is expected to result in an absent or disrupted protein … (more) This sequence change creates a premature translational stop signal (p.Phe175Leufs20) in the SGCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCG are known to be pathogenic (PMID: 18285821). This variant is present in population databases (rs765500509, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with limb girdle muscular dystrophy (PMID: 7481775, 12040521, 22240777, 23929688, 24552312). ClinVar contains an entry for this variant (Variation ID: 189243). For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (Aug 12, 2000)	no assertion criteria provided Method: literature only	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 Affected status: not provided Allele origin: germline	OMIM Accession: SCV000022239.2 First in ClinVar: Apr 04, 2013 Last updated: Sep 28, 2018	Publications: PubMed (4) PubMed: 1303286‚ 7481775‚ 8923014‚ 10942431 Comment on evidence: In 2 affected sibs from a Tunisian family with severe childhood autosomal recessive muscular dystrophy (LGMDR5; 253700) Ben Othmane et al. (1992), Noguchi et al. … (more) In 2 affected sibs from a Tunisian family with severe childhood autosomal recessive muscular dystrophy (LGMDR5; 253700) Ben Othmane et al. (1992), Noguchi et al. (1995) identified a homozygous 1-bp deletion in the SGCG gene (which they designated 645delT). The same mutation was found in affected members of 2 additional Tunisian SCARMD families. The deletion changed the reading frame at codon 175, creating a premature stop signal at codon 193 and loss of a cluster of cysteine residues in the distal portion of the protein. Immunostaining of 1 patient's muscle showed a deficiency of alpha-, beta-, and gamma-sarcoglycan, indicating instability of the entire dystrophin-glycoprotein complex. McNally et al. (1996) identified an apparently homozygous 1-bp deletion in the gamma-sarcoglycan gene of a patient with LGMDR5. The deletion (which they designated 521delT) of a single T residue from a series of 5 T residues led to onset of symptoms at the age of 4 years. Crosbie et al. (2000) reported 2 sibs with limb-girdle muscular dystrophy and cardiomyopathy who were homozygous for a 1-bp deletion (525T) in the SGCG gene, causing a phe175-to-leu substitution followed by 18 missense amino acids and a premature stop codon at position 194. Assembly of the mutant gamma-sarcoglycan into a complex with alpha-, beta-, and delta-sarcoglycan and sarcospan was not affected. (less)
Pathogenic (Feb 22, 2017)	no assertion criteria provided Method: clinical testing	Autosomal recessive limb-girdle muscular dystrophy type 2C Affected status: unknown Allele origin: unknown	Counsyl Accession: SCV001132481.1 First in ClinVar: Dec 23, 2019 Last updated: Dec 23, 2019	Publications: PubMed (1) PubMed: 12566530
Pathogenic (Aug 01, 2019)	no assertion criteria provided Method: research	Autosomal recessive limb-girdle muscular dystrophy type 2C Affected status: yes Allele origin: germline	Section for Clinical Neurogenetics, University of Tübingen Accession: SCV001156104.1 First in ClinVar: Apr 06, 2020 Last updated: Apr 06, 2020	Publications: PubMed (2) PubMed: 32214227‚ 8923014
Pathogenic (Sep 16, 2020)	no assertion criteria provided Method: clinical testing	Limb-girdle muscular dystrophy type 2C Affected status: unknown Allele origin: germline	Natera, Inc. Accession: SCV001455353.1 First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021
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Comment:

The Phe175LeufsX20 variant in SGCG has been reported in many individuals with limb girdle muscular dystrophy type 2C (LGMD2C; Noguchi 1995, Boyden 2010, Herson 2012, Schroder 2014, El Kerch 2014). Data from large population studies is insufficient to assess the frequency of this variant. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 175 and leads to a premature termination codon 20 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Complete loss of SGCG function is an established disease mechanism in LGMD2C. In summary, this variant meets our criteria to be classified as pathogenic for LGMD2C in an autosomal recessive manner.

Comment:

The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity. Found in multiple individuals with expected phenotype for this gene.

Comment:

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11693784, 18285821, 22367371, 17994539, 16832103, 23929688, 7481775, 16616845, 15954112, 14678800, 26404900, 25252238, 16916601, 22240777, 24552312, 12040521, 27759885, 30919934, 31130284, 31980526, 31127727, 8900232, 20623375, 19770540, 10942431, 32214227, 25214167, 32528171, 31589614)

Comment:

The homozygous p.Phe175LeufsTer20 variant in SGCG was identified by our study in five individuals (four siblings and one unrelated individual) with limb-girdle muscular dystrophy (LGMD). This variant has been identified in 0.006092% (15/246240) of chromosomes in the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs765500509). Although this variant has been seen in the general population, the frequency is low enough to be consistent with a recessive carrier frequency. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at position 175 and leads to a premature termination codon 20 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the SGCG gene is an established disease mechanism in autosomal recessive LGMD. This variant has also been reported in ClinVar (Variation ID: 189243). In summary, this variant meets criteria to be classified as pathogenic for LGMD in an autosomal recessive manner based on the predicted impact of the variant and multiple reports in ClinVar. ACMG/AMP Criteria applied: PM2, PVS1, PP1 (Richards 2015).

Comment:

The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.006%). Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000189243 / PMID: 7481775). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

Comment:

This sequence change creates a premature translational stop signal (p.Phe175Leufs*20) in the SGCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCG are known to be pathogenic (PMID: 18285821). This variant is present in population databases (rs765500509, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with limb girdle muscular dystrophy (PMID: 7481775, 12040521, 22240777, 23929688, 24552312). ClinVar contains an entry for this variant (Variation ID: 189243). For these reasons, this variant has been classified as Pathogenic.

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
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.	de Feraudy Y	Genome medicine	2024	DOI: 10.1186/s13073-024-01353-0
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.	Hengel H	European journal of human genetics : EJHG	2020	PMID: 32214227
Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.	El Kerch F	Genetic testing and molecular biomarkers	2014	PMID: 24552312
Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.	Schröder NW	Muscle & nerve	2014	PMID: 23929688
A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.	Herson S	Brain : a journal of neurology	2012	PMID: 22240777
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.	Boyden SE	Neurogenetics	2010	PMID: 20623375
Revised spectrum of mutations in sarcoglycanopathies.	Trabelsi M	European journal of human genetics : EJHG	2008	PMID: 18285821
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.	Moreira ES	Journal of medical genetics	2003	PMID: 12566530
[Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].	Eirís-Puñal J	Revista de neurologia	2002	PMID: 12040521
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.	Crosbie RH	Human molecular genetics	2000	PMID: 10942431
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.	McNally EM	Human molecular genetics	1996	PMID: 8923014
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.	Noguchi S	Science (New York, N.Y.)	1995	PMID: 7481775
Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.	Ben Othmane K	Nature genetics	1992	PMID: 1303286
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SGCG	-	-	-	-
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Text-mined citations for rs786204786 ...

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 Oct 20, 2024

ClinVar Genomic variation as it relates to human health

NM_000231.3(SGCG):c.525del (p.Phe175fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs786204786 ...