Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000262678 | SCV000344582 | uncertain significance | not provided | 2016-08-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001345109 | SCV001539209 | uncertain significance | GNE myopathy; Sialuria | 2022-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 15 of the GNE protein (p.Gly15Arg). This variant is present in population databases (rs762425552, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 290087). 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. |
Natera, |
RCV001828272 | SCV002075667 | uncertain significance | GNE myopathy | 2019-10-28 | no assertion criteria provided | clinical testing |