ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4585A>C (p.Thr1529Pro) (rs765195072)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182724 SCV000235107 uncertain significance not provided 2018-04-18 criteria provided, single submitter clinical testing The T1529P variant of uncertain significance in the RYR2 gene has not been published as pathogenic or been reported as benign to our knowledge. The T1529P variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The T1529P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Nevertheless, the T1529P variant 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).

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.