ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2357C>T (p.Pro786Leu)

dbSNP: rs1209724722
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001934455 SCV002211977 pathogenic Familial hemiplegic migraine 2021-04-05 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 786 of the ATP1A2 protein (p.Pro786Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with ATP1A2-related conditions (PMID: 18056581). In at least one individual the variant was observed to be de novo. 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. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects ATP1A2 protein function (PMID: 18056581, 23954377).

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.