ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.225A>C (p.Thr75=)

gnomAD frequency: 0.00001  dbSNP: rs756361032
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602968 SCV000731144 likely benign not specified 2017-01-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000867240 SCV001008443 likely benign Long QT syndrome 2024-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448906 SCV002733821 likely benign Cardiovascular phenotype 2020-07-30 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.

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