Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000806274 | SCV000946263 | pathogenic | Wilson disease | 2023-06-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro767 amino acid residue in ATP7B. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29085216). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 651012). This missense change has been observed in individual(s) with Wilson disease (PMID: 25497208). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs776668666, gnomAD 0.008%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 767 of the ATP7B protein (p.Pro767Leu). |
Genome- |
RCV000806274 | SCV001977333 | likely pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Ai |
RCV002223947 | SCV002502271 | likely pathogenic | not provided | 2022-03-21 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000806274 | SCV001463838 | uncertain significance | Wilson disease | 2020-09-16 | no assertion criteria provided | clinical testing |