ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile)

gnomAD frequency: 0.00001  dbSNP: rs746350036
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
Color Diagnostics, LLC DBA Color Health RCV001185695 SCV001351948 uncertain significance Cardiomyopathy 2022-09-19 criteria provided, single submitter clinical testing This missense variant replaces threonine with isoleucine at codon 1297 of the RYR2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/247116 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV002559915 SCV001415193 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-07-19 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293090 SCV001434073 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research

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.