ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1574C>G (p.Ser525Cys)

gnomAD frequency: 0.00004  dbSNP: rs776188922
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
Invitae RCV002537992 SCV000937966 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307449 SCV004009347 uncertain significance Cardiovascular phenotype 2023-05-22 criteria provided, single submitter clinical testing The p.S525C variant (also known as c.1574C>G), located in coding exon 16 of the RYR2 gene, results from a C to G substitution at nucleotide position 1574. The serine at codon 525 is replaced by cysteine, an amino acid with dissimilar properties. This variant was detected in an arrhythmia genetic testing cohort; however, clinical details were limited, and additional cardiac variants were detected in some cases (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). 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.
Clinical Genetics, Academic Medical Center RCV001698773 SCV001917065 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001698773 SCV001963258 uncertain significance not provided no assertion criteria provided 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.