ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3025G>A (p.Ala1009Thr)

dbSNP: rs1555755834
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498561 SCV000590738 uncertain significance not provided 2017-06-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1A gene. The A1010T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A1010T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A1010T 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. However, 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. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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