Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548917 | SCV000626853 | pathogenic | Wilson disease | 2022-01-17 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with Wilson disease (PMID: 10502777, 16283883, 21219664; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. 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: 456556). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1095 of the ATP7B protein (p.Gln1095Pro). |
Genome- |
RCV000548917 | SCV001977259 | likely pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV003480668 | SCV004226652 | pathogenic | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | PP3, PP4, PM2, PM3_strong, PS4_moderate |