ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3727C>T (p.Arg1243Cys)

dbSNP: rs1057524818
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442811 SCV000536537 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing The R1244C variant in the CACNA1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1244C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1244C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R1244C as a variant of uncertain significance.

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