ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8248T>A (p.Ser2750Thr)

gnomAD frequency: 0.00006  dbSNP: rs547987180
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 RCV001191167 SCV001358872 uncertain significance Cardiomyopathy 2022-12-09 criteria provided, single submitter clinical testing This missense variant replaces serine with threonine at codon 2750 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 reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 7/259400 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003153941 SCV001537365 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-09-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010488 SCV004823187 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2024-08-13 criteria provided, single submitter clinical testing This missense variant replaces serine with threonine at codon 2750 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 reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 7/259400 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.

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.