Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000551058 | SCV000640983 | uncertain significance | Exostoses, multiple, type 2 | 2017-08-07 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 522 of the EXT2 protein (p.Arg522Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs145507609, ExAC 0.01%). This variant has not been reported in the literature in individuals with EXT2-related disease. 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"). 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. |
Ce |
RCV003392384 | SCV004130019 | uncertain significance | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | EXT2: PP3 |