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NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
Nov 18, 2015
Accession:
VCV000067881.3
Variation ID:
67881
Description:
single nucleotide variant
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NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln)

Allele ID
78774
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 38556557 (GRCh38) GRCh38 UCSC
3: 38598048 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q14524:p.Glu1441Gln
LRG_289:g.98116G>C
LRG_289t1:c.4321G>C LRG_289p1:p.Glu1441Gln
... more HGVS
Protein change
E1440Q, E1441Q, E1422Q, E1387Q, E1423Q
Other names
-
Canonical SPDI
NC_000003.12:38556556:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA018141
UniProtKB: Q14524#VAR_074443
dbSNP: rs199473249
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 18, 2015 RCV000246368.1
not provided 1 no assertion provided - RCV000058661.2
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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
Likely pathogenic
(Nov 18, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000320667.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The p.E1441Q variant (also known as c.4321G>C), located in coding exon 24 of the SCN5A gene, results from a G to C substitution at nucleotide … (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: SCV000090181.3
Submitted: (Sep 22, 2016)
Evidence details
Publications
PubMed (2)
Comment:
This variant has been reported as associated with Brugada syndrome in the following publications (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
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. Walsh R Journal of medical genetics 2014 PMID: 24136861
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

Text-mined citations for rs199473249...

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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 27, 2021