ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.456C>T (p.Asp152=)

gnomAD frequency: 0.00031  dbSNP: rs190803993
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Total submissions: 6
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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 RCV000218287 SCV000270828 likely benign not specified 2015-05-19 criteria provided, single submitter clinical testing p.Asp152Asp in exon 4 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. It has been identified in 0.2% (16/7510) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs190803993).
GeneDx RCV001722163 SCV000514532 likely benign not provided 2021-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617677 SCV000737040 likely benign Cardiovascular phenotype 2023-05-26 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.
Color Diagnostics, LLC DBA Color Health RCV001842977 SCV000904914 likely benign Cardiac arrhythmia 2018-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001722163 SCV001002471 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541329 SCV004779053 likely benign SCN5A-related disorder 2019-08-26 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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