ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4625C>T (p.Pro1542Leu)

dbSNP: rs773901223
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481188 SCV000571536 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing The P1543L variant in the CACNA1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P1543L 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 P1543L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some 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 P1543L as a variant of uncertain significance.

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