ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.13201G>A (p.Gly4401Arg)

dbSNP: rs1183376732
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002014711 SCV002230574 uncertain significance RYR1-related disorder 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 4401 of the RYR1 protein (p.Gly4401Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with RYR1-related conditions. 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 RCV002484786 SCV002797614 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 2021-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563589 SCV003619795 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.13201G>A (p.G4401R) alteration is located in exon 91 (coding exon 91) of the RYR1 gene. This alteration results from a G to A substitution at nucleotide position 13201, causing the glycine (G) at amino acid position 4401 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.