Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001971100 | SCV002258785 | uncertain significance | Inherited glutathione synthetase deficiency | 2021-09-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with serine at codon 200 of the GSS protein (p.Gly200Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs193267972, ExAC 0.1%). This variant has not been reported in the literature in individuals with GSS-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: "Tolerated"; 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. |
| Ambry Genetics | RCV002573395 | SCV003715251 | likely benign | Inborn genetic diseases | 2022-09-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| ARUP Laboratories, |
RCV003738121 | SCV004563469 | uncertain significance | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing |