ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.14098G>A (p.Glu4700Lys)

gnomAD frequency: 0.00006  dbSNP: rs201221837
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000703149 SCV000832035 uncertain significance Epileptic encephalopathy 2020-02-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 4700 of the RYR3 protein (p.Glu4700Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs201221837, ExAC 0.01%). This variant has not been reported in the literature in individuals with RYR3-related conditions. ClinVar contains an entry for this variant (Variation ID: 579781). 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: "Benign"; 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.
Ambry Genetics RCV004026621 SCV004945142 uncertain significance not specified 2021-10-22 criteria provided, single submitter clinical testing The c.14098G>A (p.E4700K) alteration is located in exon 99 (coding exon 99) of the RYR3 gene. This alteration results from a G to A substitution at nucleotide position 14098, causing the glutamic acid (E) at amino acid position 4700 to be replaced by a lysine (K). 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.