ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14132C>G (p.Ser4711Cys)

gnomAD frequency: 0.00002  dbSNP: rs201147958
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
Invitae RCV000655548 SCV000777479 uncertain significance RYR1-related disorder 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 4711 of the RYR1 protein (p.Ser4711Cys). This variant is present in population databases (rs201147958, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 544415). 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.
PreventionGenetics, part of Exact Sciences RCV000721352 SCV000852391 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000721352 SCV001789221 uncertain significance not provided 2020-01-17 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 16084090)
Fulgent Genetics, Fulgent Genetics RCV002485487 SCV002779782 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 2021-09-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000721352 SCV003810539 uncertain significance not provided 2021-05-28 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.