ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg)

gnomAD frequency: 0.00004  dbSNP: rs765523382
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311172 SCV001501243 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing CACNA1A: PP3
Fulgent Genetics, Fulgent Genetics RCV002499596 SCV002805600 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-09-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734115 SCV005348398 likely benign CACNA1A-related disorder 2024-05-06 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.