Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001240008 | SCV001412923 | uncertain significance | Wilson disease | 2022-06-02 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 508 of the ATP7B protein (p.Arg508Thr). This variant is present in population databases (rs578173224, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 965532). 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 disruptive. 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. |
Fulgent Genetics, |
RCV001240008 | SCV002783248 | uncertain significance | Wilson disease | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003317463 | SCV004021674 | uncertain significance | not provided | 2023-07-19 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified as a secondary finding in an individual who underwent whole exome sequencing (Chetruengchai W and Shotelersuk V. 2022); This variant is associated with the following publications: (PMID: 34621001) |
Natera, |
RCV001240008 | SCV002087874 | uncertain significance | Wilson disease | 2020-02-26 | no assertion criteria provided | clinical testing |