Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001296755 | SCV001485729 | uncertain significance | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2020-02-18 | 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in an individual affected with glycogen storage disease type Ia (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with arginine at codon 86 of the G6PC protein (p.Trp86Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. |