ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.42C>T (p.Arg14=)

gnomAD frequency: 0.00004  dbSNP: rs183988524
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182887 SCV000235276 benign not specified 2014-10-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003654215 SCV000262006 benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842881 SCV001355746 likely benign Cardiac arrhythmia 2019-06-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001842881 SCV004822374 likely benign Cardiac arrhythmia 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020198 SCV005031222 likely benign Cardiovascular phenotype 2023-11-23 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.

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