ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.41G>A (p.Arg14His)

dbSNP: rs141207048
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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 RCV001206781 SCV001378108 likely benign Brugada syndrome 2024-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327473 SCV002631505 likely benign Cardiovascular phenotype 2022-05-27 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.
GeneDx RCV004720789 SCV005327898 uncertain significance not provided 2024-03-13 criteria provided, single submitter clinical testing Identified in a case of sudden unexplained nocturnal death syndrome (SUNDS) in published literature (PMID: 27272739); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27272739)

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