Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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. |