ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala)

gnomAD frequency: 0.00016  dbSNP: rs199694744
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171620 SCV000050655 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001084323 SCV000627591 likely benign Long QT syndrome 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617997 SCV000737776 likely benign Cardiovascular phenotype 2017-11-07 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 RCV000171620 SCV001754365 likely benign not provided 2020-01-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23861362)
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404312 SCV006066115 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing BS1, BP4, BP6

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