ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14624T>A (p.Met4875Lys)

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 RCV003338909 SCV004047290 uncertain significance Central core myopathy criteria provided, single submitter clinical testing The c.14624T>A (p.Met4875Lys) missense variant in RYR1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Met4875Lys variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Met at position 4875 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Met4875Lys in RYR1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as 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.