Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003082991 | SCV003483380 | uncertain significance | Exostoses, multiple, type 2 | 2022-01-31 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 141 of the EXT2 protein (p.Asp141Val). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This variant is present in population databases (rs764750397, gnomAD 0.002%). |
Revvity Omics, |
RCV003491244 | SCV004234732 | uncertain significance | not provided | 2023-02-21 | criteria provided, single submitter | clinical testing |