ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.978+1G>A

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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 RCV003985608 SCV004111659 likely pathogenic CACNA1A-related disorder 2023-03-29 criteria provided, single submitter clinical testing The CACNA1A c.978+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant was reported in multiple members of a multi-generational family with episodic ataxia 2 (referred to as 1253+1G>A, Subramony et al. 2003. PubMed ID: 14681882). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice donor site in CACNA1A are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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