ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=)

gnomAD frequency: 0.00004  dbSNP: rs368100270
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
Invitae RCV001214082 SCV001385745 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-07-13 criteria provided, single submitter clinical testing
GeneDx RCV001759476 SCV001996119 uncertain significance not provided 2019-09-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000781966 SCV000920420 uncertain significance Seizure 2017-09-01 no assertion criteria provided clinical testing

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.