ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3807C>T (p.Ala1269=)

gnomAD frequency: 0.00001  dbSNP: rs367927086
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127981 SCV000171571 benign not specified 2011-07-16 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.
Color Diagnostics, LLC DBA Color Health RCV001842453 SCV001355378 likely benign Cardiac arrhythmia 2020-03-18 criteria provided, single submitter clinical testing
Invitae RCV001490457 SCV001695020 likely benign Brugada syndrome 2020-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354320 SCV002622872 likely benign Cardiovascular phenotype 2021-07-03 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 RCV001842453 SCV004817186 likely benign Cardiac arrhythmia 2024-02-05 criteria provided, single submitter clinical testing

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