ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp)

gnomAD frequency: 0.00004  dbSNP: rs1006109370
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
GeneDx RCV001755381 SCV002005552 uncertain significance not provided 2019-05-22 criteria provided, single submitter clinical testing Reported in one individual with HCM (Lopes et al., 2015); however, additional clinical details or segregation studies were not described; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Is not located in one of the three hot-spot regions of the RYR2 gene, where the majority of pathogenic missense variants occur (Medeiros-Domingo et al., 2009); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25351510)
Ambry Genetics RCV002343837 SCV002652386 uncertain significance Cardiovascular phenotype 2020-08-03 criteria provided, single submitter clinical testing The p.R1888W variant (also known as c.5662C>T), located in coding exon 37 of the RYR2 gene, results from a C to T substitution at nucleotide position 5662. The arginine at codon 1888 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002489811 SCV002778699 uncertain significance Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003526106 SCV004277111 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-10-03 criteria provided, single submitter clinical testing

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.