ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3408C>T (p.Ser1136=)

gnomAD frequency: 0.00002  dbSNP: rs553231555
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151784 SCV000200236 likely benign not specified 2014-07-14 criteria provided, single submitter clinical testing Ser1137Ser in exon 19 of SCN5A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV001582622 SCV000291801 likely benign not provided 2023-12-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842468 SCV001352078 likely benign Cardiac arrhythmia 2019-02-16 criteria provided, single submitter clinical testing
GeneDx RCV001582622 SCV001812286 likely benign not provided 2019-01-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001842468 SCV004827424 likely benign Cardiac arrhythmia 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004668809 SCV005159775 likely benign Cardiovascular phenotype 2024-03-17 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.
Clinical Genetics, Academic Medical Center RCV000151784 SCV001917179 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001582622 SCV001966540 likely benign not provided no assertion criteria provided clinical testing

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