ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.832G>T (p.Ala278Ser)

gnomAD frequency: 0.00001  dbSNP: rs1013100046
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 RCV001559919 SCV001782241 uncertain significance not provided 2022-09-14 criteria provided, single submitter clinical testing Identified in an individual undergoing genetic testing for clinical suspicion of CADASIL, but additional clinical information was not included (Maksemous et al., 2016); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27881154)

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.