ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.992C>G (p.Ser331Ter)

dbSNP: rs1555767930
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627382 SCV000748376 likely pathogenic not provided 2018-04-25 criteria provided, single submitter clinical testing The S331X variant in the CACNA1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S331X variant is not observed in large population cohorts (Lek et al., 2016). We interpret S331X as a likely pathogenic variant.

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.