ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5811A>C (p.Glu1937Asp)

dbSNP: rs2061011355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256854 SCV001433343 uncertain significance Left ventricular noncompaction 1 2019-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486000 SCV002782455 uncertain significance Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 2021-08-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004926 SCV004841833 uncertain significance Cardiac arrhythmia 2023-11-02 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with aspartic acid at codon 1938 of the SCN5A protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SCN5A-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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