ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.321del (p.Ile108fs)

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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 RCV004728333 SCV005340683 likely pathogenic CACNA1A-related disorder 2024-08-07 no assertion criteria provided clinical testing The CACNA1A c.321delC variant is predicted to result in a frameshift and premature protein termination (p.Ile108Serfs*2). 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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