Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499538 | SCV000593532 | uncertain significance | not specified | 2017-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001363728 | SCV001559853 | uncertain significance | Wilson disease | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1454 of the ATP7B protein (p.Leu1454Pro). This variant is present in population databases (rs377492122, gnomAD 0.0008%). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 434448). 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 not expected to disrupt ATP7B protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome- |
RCV001363728 | SCV002027145 | uncertain significance | Wilson disease | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV002261096 | SCV002541575 | uncertain significance | not provided | 2021-11-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001363728 | SCV002817082 | uncertain significance | Wilson disease | 2021-10-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001363728 | SCV002086777 | uncertain significance | Wilson disease | 2020-10-12 | no assertion criteria provided | clinical testing |