ClinVar Miner

Submissions for variant NM_001036.5(RYR3):c.9581G>A (p.Arg3194His) (rs377341748)

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 RCV000689020 SCV000816655 uncertain significance Epileptic encephalopathy 2020-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 3194 of the RYR3 protein (p.Arg3194His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs377341748, ExAC 0.04%). This variant has not been reported in the literature in individuals with RYR3-related disease. ClinVar contains an entry for this variant (Variation ID: 568607). 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.
GenomeConnect, ClinGen RCV000845096 SCV000986948 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 12/04/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.