ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys) (rs779985796)

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
Fulgent Genetics,Fulgent Genetics RCV000763747 SCV000894633 uncertain significance Alternating hemiplegia of childhood 1; Familial hemiplegic migraine type 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000445337 SCV000529335 uncertain significance not provided 2016-06-27 criteria provided, single submitter clinical testing The R428C variant in the ATP1A2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. It was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The R428C variant is a non-conservative amino acid substitution that occurs at a conserved position in the cytoplasmic domain. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R428C as a variant of uncertain significance.

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.