ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1597G>C (p.Asp533His)

gnomAD frequency: 0.00001  dbSNP: rs536368135
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
Labcorp Genetics (formerly Invitae), Labcorp RCV003055114 SCV003344487 uncertain significance Familial hemiplegic migraine 2022-04-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs536368135, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 533 of the ATP1A2 protein (p.Asp533His). This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP1A2 protein function.
GeneDx RCV004700900 SCV005201293 uncertain significance not provided 2023-07-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18184292)

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.