ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.161C>T (p.Ser54Leu)

gnomAD frequency: 0.00001  dbSNP: rs372207437
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001361822 SCV001557812 uncertain significance Epileptic encephalopathy 2020-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RYR3-related conditions. 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: "Possibly 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. This variant is present in population databases (rs372207437, ExAC 0.002%). This sequence change replaces serine with leucine at codon 54 of the RYR3 protein (p.Ser54Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003761205 SCV004563752 uncertain significance Congenital myopathy 20 2023-11-29 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.