Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000631071 | SCV000752064 | uncertain significance | Glycogen storage disease, type II | 2017-08-06 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GAA-related disease. This sequence change replaces histidine with tyrosine at codon 263 of the GAA protein (p.His263Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. |