ClinVar Miner

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

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Total submissions: 2
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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.
GeneDx RCV005052052 SCV005685647 pathogenic not provided 2024-07-25 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 15622542, 14681882)

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