ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro)

gnomAD frequency: 0.00015  dbSNP: rs369438564
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724244 SCV000230648 uncertain significance not provided 2014-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000724244 SCV000329183 uncertain significance not provided 2024-12-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25633834)
Labcorp Genetics (formerly Invitae), Labcorp RCV000525777 SCV000627571 likely benign Long QT syndrome 2024-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345623 SCV002652320 likely benign Cardiovascular phenotype 2022-10-25 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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