ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=)

gnomAD frequency: 0.00001  dbSNP: rs769887736
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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 RCV002163909 SCV002474429 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-07-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883790 SCV004699681 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003985551 SCV004736489 likely benign CACNA1A-related disorder 2023-01-18 criteria provided, single submitter 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).
Breakthrough Genomics, Breakthrough Genomics RCV003883790 SCV005209547 likely benign not provided criteria provided, single submitter not provided

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