ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6770C>G (p.Ala2257Gly)

dbSNP: rs755099305
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439656 SCV000536574 uncertain significance not provided 2017-02-03 criteria provided, single submitter clinical testing The A2258G variant in the CACNA1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A2258G variant was not observed in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a common benign variant. The A2258G 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A2258G as a variant of uncertain significance.

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