ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=)

gnomAD frequency: 0.00096  dbSNP: rs200638007
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718814 SCV000512462 likely benign not provided 2019-12-24 criteria provided, single submitter clinical testing
Invitae RCV000476290 SCV000562922 benign Long QT syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618039 SCV000737753 likely benign Cardiovascular phenotype 2016-10-23 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000433917 SCV001478673 benign not specified 2021-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932554 SCV004751593 likely benign CACNA1C-related disorder 2019-06-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001718814 SCV001953011 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001718814 SCV001969521 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000433917 SCV001979108 benign not specified no assertion criteria provided clinical testing

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