Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001247126 | SCV001420531 | uncertain significance | Wilson disease | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine with valine at codon 89 of the ATP7B protein (p.Met89Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs372516400, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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, |
RCV001247126 | SCV002087909 | uncertain significance | Wilson disease | 2020-03-25 | no assertion criteria provided | clinical testing |