ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser)

dbSNP: rs1570987954
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000811387 SCV000951652 pathogenic Familial hemiplegic migraine 2024-05-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 324 of the ATP1A2 protein (p.Gly324Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with alternating hemiplesia and/or developmental and epileptic encephalopathy (PMID: 33794876; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 655259). 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 not expected to disrupt ATP1A2 protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001538751 SCV001756443 likely pathogenic not provided 2024-03-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33794876, 37142513)
Revvity Omics, Revvity RCV001538751 SCV003832794 uncertain significance not provided 2019-10-19 flagged submission clinical testing

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.