ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1465T>C (p.Tyr489His)

dbSNP: rs1568528172
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762261 SCV000892553 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000762261 SCV003918636 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.