ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2172C>G (p.His724Gln)

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
Neuberg Centre For Genomic Medicine, NCGM RCV004818977 SCV005438999 uncertain significance Central core myopathy 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.2172C>Gp.His724Gln variant in RYR1 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.His724Gln variant is present with allele frequency of 0.0008 in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidences Polyphen - Probably damaging, SIFT - Tolerated and MutationTaster - Polymorphism predict conflicting evidence on protein structure and function for this variant. The amino acid His at position 724 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance VUS.

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.