ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp)

gnomAD frequency: 0.00009  dbSNP: rs751364653
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001485194 SCV001689624 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000923208 SCV001812660 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985459 SCV004724785 uncertain significance CACNA1A-related disorder 2024-01-17 criteria provided, single submitter clinical testing The CACNA1A c.6782G>A variant is predicted to result in the amino acid substitution p.Gly2261Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0046% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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