ClinVar Miner

Submissions for variant NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) (rs1438501767)

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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662001 SCV000784333 uncertain significance Central core myopathy 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662002 SCV000784334 uncertain significance Minicore myopathy 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662003 SCV000784335 uncertain significance Malignant hyperthermia, susceptibility to, 1 2018-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721581 SCV000852673 uncertain significance not provided 2013-10-22 criteria provided, single submitter clinical testing
Invitae RCV001241734 SCV001414774 uncertain significance RYR1-Related Disorders 2019-11-13 criteria provided, single submitter clinical testing This variant, c.5140_5142del, results in the deletion of 1 amino acid(s) of the RYR1 protein (p.Leu1714del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 548508). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.