ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.993C>T (p.Asp331=)

gnomAD frequency: 0.00007  dbSNP: rs757715398
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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 RCV001672833 SCV000637214 likely benign not provided 2025-01-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841482 SCV000913859 likely benign Cardiac arrhythmia 2018-05-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195213 SCV001365519 likely benign not specified 2020-04-20 criteria provided, single submitter clinical testing The p.Asp331Asp variant in SCN5A is classified as likely benign because it does not alter an amino acid residue, is not located within the splice consensus sequence, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 0.02% (5/30602) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BP4, BS1.
GeneDx RCV001672833 SCV001890864 likely benign not provided 2018-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302815 SCV003997051 likely benign Cardiovascular phenotype 2023-04-18 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.
All of Us Research Program, National Institutes of Health RCV001841482 SCV004818766 likely benign Cardiac arrhythmia 2023-12-01 criteria provided, single submitter clinical testing

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