Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667455 | SCV000791904 | likely pathogenic | Wilson disease | 2017-05-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667455 | SCV001232686 | pathogenic | Wilson disease | 2023-03-24 | 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: 552229). This missense change has been observed in individuals with Wilson disease (PMID: 9671269, 15967699, 20958917, 24932333, 30230192). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 918 of the ATP7B protein (p.Asp918Asn). |
Genome- |
RCV000667455 | SCV001977154 | uncertain significance | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000667455 | SCV001459720 | uncertain significance | Wilson disease | 2020-09-16 | no assertion criteria provided | clinical testing |