ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=)

gnomAD frequency: 0.00010  dbSNP: rs372300407
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461165 SCV000562880 likely benign Long QT syndrome 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618105 SCV000737421 likely benign Cardiovascular phenotype 2017-07-10 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 RCV001093116 SCV001866299 likely benign not provided 2018-07-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481495 SCV002794842 likely benign Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-08-03 criteria provided, single submitter clinical testing

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