ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1557T>C (p.Ser519=)

gnomAD frequency: 0.00003  dbSNP: rs371560571
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003766985 SCV000637084 likely benign not provided 2023-11-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841457 SCV001734915 likely benign Cardiac arrhythmia 2020-07-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404423 SCV002704922 likely benign Cardiovascular phenotype 2021-06-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002491005 SCV002795110 likely benign 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 2021-10-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001841457 SCV004815038 likely benign Cardiac arrhythmia 2023-06-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541682 SCV004758919 likely benign SCN5A-related disorder 2020-03-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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