ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4238A>G (p.Asp1413Gly)

dbSNP: rs1060500146
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 RCV002545292 SCV002115820 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-03-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RYR2-related conditions. This sequence change replaces aspartic acid with glycine at codon 1413 of the RYR2 protein (p.Asp1413Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). 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 RYR2 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.

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.