Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001051461 | SCV001215616 | uncertain significance | Wilson disease | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with valine at codon 279 of the ATP7B protein (p.Ile279Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 |
RCV003326532 | SCV004033267 | uncertain significance | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | ATP7B: PM2, PM3:Supporting, PP4, BP4 |