ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)

dbSNP: rs886041380
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000266687 SCV000329915 pathogenic not provided 2021-11-22 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23919265, 22473935, 31589614)
Labcorp Genetics (formerly Invitae), Labcorp RCV001385846 SCV001585840 pathogenic RYR1-related disorder 2023-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2270Leufs*13) in the RYR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RYR1 are known to be pathogenic (PMID: 23919265, 25960145, 28818389, 30611313). This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with autosomal recessive RYR1-related myopathy (PMID: 22473935). ClinVar contains an entry for this variant (Variation ID: 280096). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000266687 SCV002019928 pathogenic not provided 2021-09-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503974 SCV002804750 pathogenic Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-09-23 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004546473 SCV005042687 pathogenic Congenital multicore myopathy with external ophthalmoplegia 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.