Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780930 | SCV000918591 | uncertain significance | not specified | 2018-04-20 | criteria provided, single submitter | clinical testing | Variant summary: ATP7B c.1298C>G (p.Thr433Ser) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 276018 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1298C>G in individuals affected with Wilson Disease and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Fulgent Genetics, |
RCV001277083 | SCV002779779 | uncertain significance | Wilson disease | 2021-09-21 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001277083 | SCV003474944 | uncertain significance | Wilson disease | 2023-09-01 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 633068). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 433 of the ATP7B protein (p.Thr433Ser). |
| Mayo Clinic Laboratories, |
RCV003480813 | SCV004226453 | uncertain significance | not provided | 2022-11-08 | criteria provided, single submitter | clinical testing | BP4, PM2 |
| Natera, |
RCV001277083 | SCV001463851 | uncertain significance | Wilson disease | 2020-09-16 | no assertion criteria provided | clinical testing |