ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3380G>A (p.Arg1127His)

gnomAD frequency: 0.00004  dbSNP: rs545579559
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 RCV001040265 SCV001203828 uncertain significance RYR1-Related Disorders 2022-03-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1127 of the RYR1 protein (p.Arg1127His). This variant is present in population databases (rs545579559, gnomAD 0.1%). This missense change has been observed in individual(s) with idiopathic hyperCKemia (PMID: 20681998). ClinVar contains an entry for this variant (Variation ID: 838675). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002481878 SCV002791574 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-12-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141956 SCV003820566 uncertain significance not provided 2019-05-09 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.