ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5780_5783dup (p.Ile1929fs)

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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 RCV003985594 SCV004107008 likely pathogenic CACNA1A-related disorder 2023-08-11 criteria provided, single submitter clinical testing The CACNA1A c.5780_5783dupTGGC variant is predicted to result in a frameshift and premature protein termination (p.Ile1929Glyfs*134). 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. Frameshift variants in CACNA1A are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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