ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14833C>T (rs1432807966)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541517 SCV000659860 pathogenic RYR1-Related Disorders 2017-07-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg4945*) in the RYR1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with malignant hyperthermia susceptibility (PMID: 24433488). Loss-of-function variants in RYR1 are known to cause autosomal recessive RYR1-related disorders (PMID: 23919265, 20583297). For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000595499 SCV000705505 likely pathogenic not provided 2017-02-22 criteria provided, single submitter clinical testing
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV000595499 SCV001450334 likely pathogenic not provided 2017-01-03 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.