ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003082827 SCV003482571 pathogenic RYR1-related disorder 2023-06-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2168951). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RYR1-related conditions. This sequence change creates a premature translational stop signal (p.Arg817*) 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 (rs150633775, gnomAD 0.006%).
Fulgent Genetics, Fulgent Genetics RCV005021563 SCV005647457 likely pathogenic Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 2024-06-15 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.