ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6958C>T (p.Gln2320Ter)

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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 RCV003985603 SCV004110243 uncertain significance CACNA1A-related disorder 2023-04-07 criteria provided, single submitter clinical testing The CACNA1A c.6958C>T variant is predicted to result in premature protein termination (p.Gln2320*). 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. Although this variant is predicted to result in an early termination change, it is located in the terminal exon, and other early termination changes are observed nearby in the gnomAD database of individuals with unknown phenotypes. 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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