ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3264C>T (p.Ala1088=)

gnomAD frequency: 0.00002  dbSNP: rs916089734
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001467321 SCV001671345 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-07-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426120 SCV004138004 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003985499 SCV004764889 likely benign CACNA1A-related disorder 2019-10-14 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).

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