Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001202130 | SCV001373232 | uncertain significance | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2020-02-22 | criteria provided, single submitter | clinical testing | 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. 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"). This variant has not been reported in the literature in individuals with G6PC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with lysine at codon 123 of the G6PC protein (p.Thr123Lys). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and lysine. |
Natera, |
RCV001202130 | SCV002093304 | uncertain significance | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2020-09-29 | no assertion criteria provided | clinical testing |