The c.1091_1093delAGA variant in the SMARCB1 gene is a recurrent pathogenic variant seen in individuals with Coffin-Siris syndrome (Tsurusaki et al., 2012; Santen et al., 2013; Kosho et al., 2014; Tsurusaki et al., 2014). The c.1091_1093delAGA variant causes an in-frame deletion of codon Lysine 364, denoted p.Lys364del. The c.1091_1093delAGA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1091_1093delAGA as a pathogenic variant.
ClinVar Genomic variation as it relates to human health
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
Germline
Classification
Help
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.
(10)
Help
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
10
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
Variation ID: 30201 Accession: VCV000030201.22
- Type and length
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Microsatellite, 3 bp
- Location
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Cytogenetic: 22q11.23 22: 23833670-23833672 (GRCh38) [ NCBI UCSC ] 22: 24175857-24175859 (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 1, 2016 May 1, 2024 Sep 6, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_003073.5:c.1085AGA[2] MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_003064.2:p.Lys364del inframe deletion NM_003073.5:c.1091_1093del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_001007468.3:c.1058AGA[2] NP_001007469.1:p.Lys355del inframe deletion NM_001317946.2:c.1112AGA[2] NP_001304875.1:p.Lys373del inframe deletion NM_001362877.2:c.1139AGA[2] NP_001349806.1:p.Lys382del inframe deletion NM_003073.3:c.1091_1093del NC_000022.11:g.23833670AGA[2] NC_000022.10:g.24175857AGA[2] NG_009303.1:g.51708AGA[2] LRG_520:g.51708AGA[2] LRG_520t1:c.1091_1093del LRG_520p1:p.Lys364del - Protein change
- K364del, K373del, K355del, K382del
- Other names
- -
- Canonical SPDI
- NC_000022.11:23833669:AGAAGAAGA:AGAAGA
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe 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
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 | ||
|---|---|---|---|---|---|---|
| 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. |
|||
| SMARCB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1074 | 1213 | |
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. |
|---|---|---|---|---|
| Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
|
Sep 2, 2022 | RCV000023121.24 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Jan 26, 2022 | RCV000377856.16 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Sep 6, 2023 | RCV002444438.9 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Apr 11, 2022 | RCV002504820.8 |
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. |
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|---|---|---|---|---|---|
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Pathogenic
(May 02, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000329522.6
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Comment:
The c.1091_1093delAGA variant in the SMARCB1 gene is a recurrent pathogenic variant seen in individuals with Coffin-Siris syndrome (Tsurusaki et al., 2012; Santen et al., … (more)
The c.1091_1093delAGA variant in the SMARCB1 gene is a recurrent pathogenic variant seen in individuals with Coffin-Siris syndrome (Tsurusaki et al., 2012; Santen et al., 2013; Kosho et al., 2014; Tsurusaki et al., 2014). The c.1091_1093delAGA variant causes an in-frame deletion of codon Lysine 364, denoted p.Lys364del. The c.1091_1093delAGA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1091_1093delAGA as a pathogenic variant. (less)
|
|
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Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability, autosomal dominant 15
Affected status: yes
Allele origin:
unknown
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
Accession: SCV000999275.1
First in ClinVar: Nov 29, 2019 Last updated: Nov 29, 2019 |
Number of individuals with the variant: 1
Clinical Features:
Gastrostomy tube feeding in infancy (present) , Feeding difficulties (present) , Sparse scalp hair (present) , Hypertrichosis (present) , Thick eyebrow (present) , Long eyelashes … (more)
Gastrostomy tube feeding in infancy (present) , Feeding difficulties (present) , Sparse scalp hair (present) , Hypertrichosis (present) , Thick eyebrow (present) , Long eyelashes (present) , Ptosis (present) , Wide nasal bridge (present) , Broad philtrum (present) , Thick upper lip vermilion (present) , Thick lower lip vermilion (present) , High palate (present) , Hypoplastic fifth fingernail (present) , Hypoplastic fifth toenail (present) , Aplasia/Hypoplasia of the nails (present) , Scoliosis (present) , Dextrocardia (present) , Gastroesophageal reflux (present) , Pyloric stenosis (present) , Cryptorchidism (present) , Hiatal hernia (present) , Inguinal hernia (present) , Visual impairment (present) , Amblyopia (present) , Recurrent infections (present) , Muscular hypotonia (present) , Seizures (present) , Abnormality of the corpus callosum (present) , Severe global developmental delay (present) , Poor speech (present) , Hyperactivity (present) (less)
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Pathogenic
(Jan 11, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability, autosomal dominant 15
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV003835181.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
|
|
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Pathogenic
(Jan 26, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000761502.7
First in ClinVar: May 28, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant has been observed in individual(s) with clinical features of Coffin-Siris syndrome (PMID: 22426308, 23815551, 23929686, 25533962). In at least one individual the variant … (more)
This variant has been observed in individual(s) with clinical features of Coffin-Siris syndrome (PMID: 22426308, 23815551, 23929686, 25533962). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 30201). This variant is not present in population databases (gnomAD no frequency). This variant, c.1091_1093del, results in the deletion of 1 amino acid(s) of the SMARCB1 protein (p.Lys364del), but otherwise preserves the integrity of the reading frame. (less)
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Pathogenic
(Sep 08, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability, autosomal dominant 15
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
Accession: SCV000680384.1
First in ClinVar: May 29, 2016 Last updated: May 29, 2016 |
Sex: female
Tissue: blood
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|
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Pathogenic
(Sep 02, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability, autosomal dominant 15
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV001244989.2
First in ClinVar: May 04, 2020 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0103 - Dominant negative, loss of function and gain … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0103 - Dominant negative, loss of function and gain of function are all known mechanisms of disease in this gene. Loss of function variants are associated with cancer susceptibility (rhabdoid tumor predisposition syndrome 1 (MIM#609322), schwannomatosis-1 (MIM#162091), rhabdoid tumors somatic (MIM#609322)). An inframe deletion variant, missense variants and truncating variants escaping nonsense-mediated decay have been reported to have either a gain of function or dominant negative mechanism, and are all associated with Coffin-Siris syndrome 3 (MIM#614608) (OMIM, PMID: 31759698). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0213 - In-frame insertion/deletion in a non-repetitive region that has high conservation. (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0602 - Variant is located in a hotspot region or cluster of pathogenic variants (DECIPHER, PMID: 31759698). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported multiple times as pathogenic and de novo in individuals with Coffin-Siris syndrome (PMID: 31759698, ClinVar, DECIPHER). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed, by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Pathogenic
(Apr 11, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Schwannomatosis 1
Rhabdoid tumor predisposition syndrome 1 Intellectual disability, autosomal dominant 15
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002800766.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
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Pathogenic
(Sep 06, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002734110.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.1091_1093delAGA (p.K364del) alteration, located in coding exon 8 of the SMARCB1 gene, results from an in-frame deletion of 3 nucleotides at positions c.1091 toc.1093. … (more)
The c.1091_1093delAGA (p.K364del) alteration, located in coding exon 8 of the SMARCB1 gene, results from an in-frame deletion of 3 nucleotides at positions c.1091 toc.1093. This results in the deletion of 1 amino acid at codon 364. _x000D_ _x000D_ Based on the available evidence, the SMARCB1 c.1091_1093delAGA (p.K364del) alteration is classified as pathogenic for SMARCB1-related Coffin-Siris syndrome; however, its clinical significance for SMARCB1-related tumor predisposition syndrome is uncertain. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported in multiple individuals with a clinical diagnosis of Coffin-Siris syndrome, including several with confirmed de novo origin (Tsurusaki, 2012; Santen, 2013; Kosho, 2013; Kosho, 2014; Miyake, 2014; Sekiguchi, 2019). This amino acid position is highly conserved in available vertebrate species. In vitro and cell-based functional studies demonstrated this alteration results in reduced mSWI/SNF functional activity and is defective in generating DNA accessibility and in activating critical target genes (Valencia, 2019). This alteration is predicted to be deleterious by in silico analysis (Choi, 2012). Based on the available evidence, this alteration is classified as pathogenic. (less)
|
|
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Pathogenic
(Mar 18, 2012)
|
no assertion criteria provided
Method: literature only
|
COFFIN-SIRIS SYNDROME 3
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000044412.2
First in ClinVar: Apr 04, 2013 Last updated: May 01, 2016 |
Comment on evidence:
In 3 patients (patients 4, 21, and 22) with Coffin-Siris syndrome (CSS3; 614608), Tsurusaki et al. (2012) identified a heterozygous 3-bp in-frame deletion in the … (more)
In 3 patients (patients 4, 21, and 22) with Coffin-Siris syndrome (CSS3; 614608), Tsurusaki et al. (2012) identified a heterozygous 3-bp in-frame deletion in the SMARCB1 gene (1091_1093delAGA) that resulted in deletion of lysine-364 (lys364del). The mutation was de novo in 2 cases, and parental samples were unavailable in the third. This mutation was not seen in any of 502 Japanese control chromosomes. (less)
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|
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not provided
(-)
|
no classification provided
Method: literature only
|
Intellectual disability, autosomal dominant 15
Affected status: unknown
Allele origin:
germline
|
GeneReviews
Accession: SCV000268063.3
First in ClinVar: May 14, 2016 Last updated: Oct 01, 2022 |
Comment:
Recurrent de novo pathogenic variant; affected persons had strikingly similar clinical manifestations.
|
Comment:
Comment:
This variant has been observed in individual(s) with clinical features of Coffin-Siris syndrome (PMID: 22426308, 23815551, 23929686, 25533962). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 30201). This variant is not present in population databases (gnomAD no frequency). This variant, c.1091_1093del, results in the deletion of 1 amino acid(s) of the SMARCB1 protein (p.Lys364del), but otherwise preserves the integrity of the reading frame.
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0103 - Dominant negative, loss of function and gain of function are all known mechanisms of disease in this gene. Loss of function variants are associated with cancer susceptibility (rhabdoid tumor predisposition syndrome 1 (MIM#609322), schwannomatosis-1 (MIM#162091), rhabdoid tumors somatic (MIM#609322)). An inframe deletion variant, missense variants and truncating variants escaping nonsense-mediated decay have been reported to have either a gain of function or dominant negative mechanism, and are all associated with Coffin-Siris syndrome 3 (MIM#614608) (OMIM, PMID: 31759698). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0213 - In-frame insertion/deletion in a non-repetitive region that has high conservation. (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0602 - Variant is located in a hotspot region or cluster of pathogenic variants (DECIPHER, PMID: 31759698). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported multiple times as pathogenic and de novo in individuals with Coffin-Siris syndrome (PMID: 31759698, ClinVar, DECIPHER). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed, by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Comment:
The c.1091_1093delAGA (p.K364del) alteration, located in coding exon 8 of the SMARCB1 gene, results from an in-frame deletion of 3 nucleotides at positions c.1091 toc.1093. This results in the deletion of 1 amino acid at codon 364. _x000D_ _x000D_ Based on the available evidence, the SMARCB1 c.1091_1093delAGA (p.K364del) alteration is classified as pathogenic for SMARCB1-related Coffin-Siris syndrome; however, its clinical significance for SMARCB1-related tumor predisposition syndrome is uncertain. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported in multiple individuals with a clinical diagnosis of Coffin-Siris syndrome, including several with confirmed de novo origin (Tsurusaki, 2012; Santen, 2013; Kosho, 2013; Kosho, 2014; Miyake, 2014; Sekiguchi, 2019). This amino acid position is highly conserved in available vertebrate species. In vitro and cell-based functional studies demonstrated this alteration results in reduced mSWI/SNF functional activity and is defective in generating DNA accessibility and in activating critical target genes (Valencia, 2019). This alteration is predicted to be deleterious by in silico analysis (Choi, 2012). Based on the available evidence, this alteration is classified as pathogenic.
Comment:
Recurrent de novo pathogenic variant; affected persons had strikingly similar clinical manifestations.
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:
The c.1091_1093delAGA variant in the SMARCB1 gene is a recurrent pathogenic variant seen in individuals with Coffin-Siris syndrome (Tsurusaki et al., 2012; Santen et al., 2013; Kosho et al., 2014; Tsurusaki et al., 2014). The c.1091_1093delAGA variant causes an in-frame deletion of codon Lysine 364, denoted p.Lys364del. The c.1091_1093delAGA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1091_1093delAGA as a pathogenic variant.
Comment:
This variant has been observed in individual(s) with clinical features of Coffin-Siris syndrome (PMID: 22426308, 23815551, 23929686, 25533962). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 30201). This variant is not present in population databases (gnomAD no frequency). This variant, c.1091_1093del, results in the deletion of 1 amino acid(s) of the SMARCB1 protein (p.Lys364del), but otherwise preserves the integrity of the reading frame.
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0103 - Dominant negative, loss of function and gain of function are all known mechanisms of disease in this gene. Loss of function variants are associated with cancer susceptibility (rhabdoid tumor predisposition syndrome 1 (MIM#609322), schwannomatosis-1 (MIM#162091), rhabdoid tumors somatic (MIM#609322)). An inframe deletion variant, missense variants and truncating variants escaping nonsense-mediated decay have been reported to have either a gain of function or dominant negative mechanism, and are all associated with Coffin-Siris syndrome 3 (MIM#614608) (OMIM, PMID: 31759698). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0213 - In-frame insertion/deletion in a non-repetitive region that has high conservation. (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0602 - Variant is located in a hotspot region or cluster of pathogenic variants (DECIPHER, PMID: 31759698). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported multiple times as pathogenic and de novo in individuals with Coffin-Siris syndrome (PMID: 31759698, ClinVar, DECIPHER). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed, by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Comment:
The c.1091_1093delAGA (p.K364del) alteration, located in coding exon 8 of the SMARCB1 gene, results from an in-frame deletion of 3 nucleotides at positions c.1091 toc.1093. This results in the deletion of 1 amino acid at codon 364. _x000D_ _x000D_ Based on the available evidence, the SMARCB1 c.1091_1093delAGA (p.K364del) alteration is classified as pathogenic for SMARCB1-related Coffin-Siris syndrome; however, its clinical significance for SMARCB1-related tumor predisposition syndrome is uncertain. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported in multiple individuals with a clinical diagnosis of Coffin-Siris syndrome, including several with confirmed de novo origin (Tsurusaki, 2012; Santen, 2013; Kosho, 2013; Kosho, 2014; Miyake, 2014; Sekiguchi, 2019). This amino acid position is highly conserved in available vertebrate species. In vitro and cell-based functional studies demonstrated this alteration results in reduced mSWI/SNF functional activity and is defective in generating DNA accessibility and in activating critical target genes (Valencia, 2019). This alteration is predicted to be deleterious by in silico analysis (Choi, 2012). Based on the available evidence, this alteration is classified as pathogenic.
Comment:
Recurrent de novo pathogenic variant; affected persons had strikingly similar clinical manifestations.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Coffin-Siris Syndrome. | Adam MP | - | 2021 | PMID: 23556151 |
| Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling. | Valencia AM | Cell | 2019 | PMID: 31759698 |
| Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. | Sekiguchi F | Journal of human genetics | 2019 | PMID: 31530938 |
| Large-scale discovery of novel genetic causes of developmental disorders. | Deciphering Developmental Disorders Study | Nature | 2015 | PMID: 25533962 |
| Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. | Kosho T | American journal of medical genetics. Part C, Seminars in medical genetics | 2014 | PMID: 25168959 |
| Numerous BAF complex genes are mutated in Coffin-Siris syndrome. | Miyake N | American journal of medical genetics. Part C, Seminars in medical genetics | 2014 | PMID: 25081545 |
| Coffin-Siris syndrome is a SWI/SNF complex disorder. | Tsurusaki Y | Clinical genetics | 2014 | PMID: 23815551 |
| Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. | Santen GW | Human mutation | 2013 | PMID: 23929686 |
| Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. | Kosho T | American journal of medical genetics. Part A | 2013 | PMID: 23637025 |
| Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. | Tsurusaki Y | Nature genetics | 2012 | PMID: 22426308 |
Text-mined citations for rs875989800 ...
HelpThese 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
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.