ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1557C>A (p.Ala519=)

dbSNP: rs186720824
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311414 SCV000846701 likely benign Cardiovascular phenotype 2016-07-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000868037 SCV001009323 benign Long QT syndrome 2023-11-20 criteria provided, single submitter clinical testing
GeneDx RCV001612975 SCV001834243 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950046 SCV004766541 likely benign CACNA1C-related disorder 2019-12-18 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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