Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000410917 | SCV000487078 | likely pathogenic | Wilson disease | 2016-10-05 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000410917 | SCV002243635 | pathogenic | Wilson disease | 2022-07-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 939 of the ATP7B protein (p.Trp939Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Wilson disease (PMID: 23430908). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 371483). |
| Fulgent Genetics, |
RCV000410917 | SCV002805952 | likely pathogenic | Wilson disease | 2021-10-06 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000410917 | SCV004216458 | pathogenic | Wilson disease | 2023-03-07 | criteria provided, single submitter | clinical testing | |
| Mayo Clinic Laboratories, |
RCV003480625 | SCV004226663 | pathogenic | not provided | 2022-09-30 | criteria provided, single submitter | clinical testing | PP1, PP3, PP4, PM2, PM3, PS4 |