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NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Oct 30, 2021)
Last evaluated:
Oct 28, 2021
Accession:
VCV000372511.7
Variation ID:
372511
Description:
single nucleotide variant
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NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)

Allele ID
360483
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q11.23
Genomic location
22: 23834143 (GRCh38) GRCh38 UCSC
22: 24176330 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_520:g.52181G>A
NC_000022.10:g.24176330G>A
NC_000022.11:g.23834143G>A
... more HGVS
Protein change
R374Q, R365Q, R392Q, R383Q
Other names
-
Canonical SPDI
NC_000022.11:23834142:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16043146
dbSNP: rs1057517825
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 28, 2021 RCV000412754.3
Pathogenic 1 criteria provided, single submitter Nov 22, 2016 RCV000622632.2
Likely pathogenic 1 criteria provided, single submitter Dec 31, 2017 RCV000850606.1
SMARCB1-related BAFopathy
Pathogenic 1 criteria provided, single submitter Jun 10, 2021 RCV001533136.1

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMARCB1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
521 640

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 28, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000490818.2
Submitted: (Oct 30, 2021)
Evidence details
Comment:
Reported in an adult male in published literature with Coffin-Siris syndrome and schwannomatosis (Gossai et al., 2015); In silico analysis supports that this missense variant … (more)
Likely pathogenic
(Nov 28, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000940629.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces arginine with glutamine at codon 374 of the SMARCB1 protein (p.Arg374Gln). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(Dec 31, 2017)
criteria provided, single submitter
Method: clinical testing
Mental retardation, autosomal dominant 15
Allele origin: germline
Baylor Genetics
Accession: SCV000992837.1
Submitted: (Mar 14, 2019)
Evidence details
Publications
PubMed (2)
Pathogenic
(Nov 22, 2016)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000741911.2
Submitted: (Oct 09, 2020)
Evidence details
Publications
PubMed (1)
Pathogenic
(Jun 10, 2021)
criteria provided, single submitter
Method: clinical testing
SMARCB1-related BAFopathy
Allele origin: de novo
Baylor Genetics
Accession: SCV001748956.1
Submitted: (Jul 01, 2021)
Evidence details

Functional evidence

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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.

Citations for this variant

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Title Author Journal Year Link
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. Gossai N American journal of medical genetics. Part A 2015 PMID: 26364901
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Wieczorek D Human molecular genetics 2013 PMID: 23906836

Text-mined citations for rs1057517825...

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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 06, 2021