ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val)

gnomAD frequency: 0.00005  dbSNP: rs551396698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170818 SCV000223373 uncertain significance not provided 2023-11-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24981977, 34999275)
Labcorp Genetics (formerly Invitae), Labcorp RCV002515227 SCV003031248 benign Long QT syndrome 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298200 SCV003996939 benign Cardiovascular phenotype 2023-04-11 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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