ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.345C>T (p.Tyr115=)

gnomAD frequency: 0.00004  dbSNP: rs397516525
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036731 SCV000060386 likely benign not specified 2012-08-22 criteria provided, single submitter clinical testing Tyr115Tyr in exon 6 of RYR2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Tyr115Tyr in exon 6 of RYR2 (allele frequency = n/a)
Color Diagnostics, LLC DBA Color Health RCV000771380 SCV000903682 likely benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing
Invitae RCV002513415 SCV001723227 benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453308 SCV002617955 benign Cardiovascular phenotype 2021-06-03 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.