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NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jun 11, 2021)
Last evaluated:
Dec 10, 2020
Accession:
VCV000068011.5
Variation ID:
68011
Description:
single nucleotide variant
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NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser)

Allele ID
78903
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 38550569 (GRCh38) GRCh38 UCSC
3: 38592060 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.38592060C>T
NM_198056.2:c.5803G>A NP_932173.1:p.Gly1935Ser missense
LRG_289:g.104104G>A
... more HGVS
Protein change
G1934S, G1935S, G1916S, G1881S, G1917S, G1902S
Other names
-
Canonical SPDI
NC_000003.12:38550568:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA019483
dbSNP: rs199473637
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Mar 26, 2020 RCV000058807.5
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000764500.1
Uncertain significance 1 criteria provided, single submitter Dec 10, 2020 RCV000777698.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN5A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2366 2620

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Progressive familial heart block, type 1A
SUDDEN INFANT DEATH SYNDROME
Brugada syndrome 1
Dilated cardiomyopathy 1E
Paroxysmal familial ventricular fibrillation 1
Long QT syndrome 3
Sick sinus syndrome 1, autosomal recessive
Atrial fibrillation, familial, 10
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000895571.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Mar 26, 2020)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome
Allele origin: germline
Invitae
Accession: SCV000812435.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces glycine with serine at codon 1935 of the SCN5A protein (p.Gly1935Ser). The glycine residue is moderately conserved and there is a … (more)
Uncertain significance
(Dec 10, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmia
Allele origin: germline
Color Health, Inc
Accession: SCV000913631.2
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces glycine with serine at codon 1935 of the SCN5A protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
not provided
(-)
no assertion provided
Method: literature only
Brugada syndrome
Allele origin: germline
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust
Accession: SCV000090327.3
Submitted: (Sep 22, 2016)
Evidence details
Publications
PubMed (4)
Comment:
This variant has been reported as associated with Brugada syndrome in the following publications (PMID:16267250;PMID:18508782;PMID:20129283). This is a literature report, and does not necessarily reflect … (more)

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. Fujii Y Journal of cardiology 2017 PMID: 27816319
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Kapplinger JD Heart rhythm 2010 PMID: 20129283
Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Behr ER European heart journal 2008 PMID: 18508782
Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation. Casini S Cardiovascular research 2007 PMID: 17854786
Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study. Coronel R Circulation 2005 PMID: 16267250

Text-mined citations for rs199473637...

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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 20, 2021