ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter) (rs1165052640)

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 Praxis fuer Humangenetik Tuebingen RCV000512724 SCV000608500 likely pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000557101 SCV000632359 pathogenic Familial hemiplegic migraine 2017-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg421*) in the ATP1A2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATP1A2-related disease. Loss-of-function variants in ATP1A2 are known to be pathogenic (PMID: 18056581). For these reasons, this variant has been classified as Pathogenic.

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.