ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2935G>A (p.Val979Met) (rs1555874590)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658096 SCV000779867 uncertain significance not provided 2018-05-08 criteria provided, single submitter clinical testing The V979M variant in the CACNA1C gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V979M variant is not observed in large population cohorts (Lek et al., 2016). The V979M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret V979M as a variant of uncertain significance.

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