ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.970C>T (p.Arg324Trp)

dbSNP: rs2154571835
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773211 SCV002001638 likely pathogenic not provided 2024-09-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34163037, 34547244)
MGZ Medical Genetics Center RCV002290750 SCV002580700 uncertain significance Long qt syndrome 8 2022-06-10 criteria provided, single submitter clinical testing

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