Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673490 | SCV000798698 | likely pathogenic | Wilson disease | 2018-03-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001091640 | SCV001247800 | likely pathogenic | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673490 | SCV002236292 | pathogenic | Wilson disease | 2023-01-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP7B protein function. ClinVar contains an entry for this variant (Variation ID: 557358). This missense change has been observed in individual(s) with Wilson disease (PMID: 22763723, 23159873, 24794161). This variant is present in population databases (rs751798708, gnomAD 0.0009%). This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 779 of the ATP7B protein (p.Trp779Gly). |