ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val) (rs533892755)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480891 SCV000566103 uncertain significance not provided 2015-04-01 criteria provided, single submitter clinical testing The A317V variant in the CACNA1C gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The A317V variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A317V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A317V as a variant of unknown significance.

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