ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2626G>A (p.Gly876Ser)

gnomAD frequency: 0.00005  dbSNP: rs763054302
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001424304 SCV001626900 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2025-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001563313 SCV001786231 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV001563313 SCV005209544 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004734183 SCV005345717 likely benign CACNA1A-related disorder 2024-04-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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