ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4489G>A (p.Gly1497Arg)

gnomAD frequency: 0.00002  dbSNP: rs748678280
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
Ambry Genetics RCV000244491 SCV000318474 uncertain significance Cardiovascular phenotype 2013-03-04 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Color Diagnostics, LLC DBA Color Health RCV001189409 SCV001356695 uncertain significance Cardiomyopathy 2019-12-16 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 1497 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). Splice site prediction tools suggest that this variant may not impact RNA splicing. 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 4/248530 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 RCV002518685 SCV002241537 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-11-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999018 SCV004818256 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-04-27 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 1497 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). Splice site prediction tools suggest that this variant may not impact RNA splicing. 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 4/248530 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.