Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045915 | SCV001209790 | uncertain significance | Glycogen storage disease, type II | 2019-05-03 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with serine at codon 334 of the GAA protein (p.Gly334Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in an individual affected with Pompe disease (PMID: 21687968). This variant is not present in population databases (ExAC no frequency). |
Baylor Genetics | RCV001045915 | SCV004197799 | pathogenic | Glycogen storage disease, type II | 2023-07-08 | criteria provided, single submitter | clinical testing |