ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys)

dbSNP: rs1553531703
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
Invitae RCV002529923 SCV000760651 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2018-01-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been reported to be de novo in an individual affected with arrhythmia (Invitae). This sequence change replaces glutamic acid with lysine at codon 2138 of the RYR2 protein (p.Glu2138Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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.