ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala)

gnomAD frequency: 0.00002  dbSNP: rs369884505
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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 RCV000694281 SCV000822717 likely benign Long QT syndrome 2023-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440468 SCV002746681 likely benign Cardiovascular phenotype 2022-04-13 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.
Fulgent Genetics, Fulgent Genetics RCV002493190 SCV002781085 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-09-09 criteria provided, single submitter clinical testing

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