ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.271G>C (p.Ala91Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003985592 SCV004110083 uncertain significance CACNA1A-related disorder 2023-01-24 criteria provided, single submitter clinical testing The CACNA1A c.271G>C variant is predicted to result in the amino acid substitution p.Ala91Pro. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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