Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705832 | SCV000834849 | uncertain significance | Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with phenylalanine at codon 549 of the GBE1 protein (p.Leu549Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GBE1-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: "Deleterious"; 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. |
Natera, |
RCV001830563 | SCV002082378 | uncertain significance | Glycogen storage disease, type IV | 2020-09-02 | no assertion criteria provided | clinical testing |