ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.1141A>G (p.Ile381Val)

gnomAD frequency: 0.00041  dbSNP: rs150923753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081257 SCV000558488 likely benign Brugada syndrome 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000599884 SCV000714741 likely benign not specified 2017-08-24 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.
Ambry Genetics RCV002455872 SCV002616991 benign Cardiovascular phenotype 2019-04-12 criteria provided, single submitter clinical testing This alteration is classified as 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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