ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu)

dbSNP: rs1599723609
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996936 SCV001151940 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV000996936 SCV002503239 likely pathogenic not provided 2021-04-14 criteria provided, single submitter clinical testing
Invitae RCV002550704 SCV003348879 uncertain significance Dystonia 12 2022-08-24 criteria provided, single submitter clinical testing 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 ATP1A3 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 808591). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 190 of the ATP1A3 protein (p.Pro190Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATP1A3-related conditions.

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.