ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4470C>A (p.Tyr1490Ter)

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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 RCV003985676 SCV004796945 likely pathogenic CACNA1A-related disorder 2024-02-26 no assertion criteria provided clinical testing The CACNA1A c.4470C>A variant is predicted to result in premature protein termination (p.Tyr1490*). 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. A downstream frameshift variant leading to protein truncation or nonsense mediated decay (p.Pro2052fs) has been reported in patients with episodic ataxia type 2 (Jen et al. 2004. PubMed ID: 14718690). Nonsense variants in CACNA1A are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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