Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671607 | SCV000796595 | uncertain significance | Wilson disease | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671607 | SCV000931546 | uncertain significance | Wilson disease | 2021-12-23 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 136 of the ATP7B protein (p.Arg136Trp). This variant is present in population databases (rs557577836, gnomAD 0.03%). This missense change has been observed in individual(s) with Wilson disease (PMID: 23518715). ClinVar contains an entry for this variant (Variation ID: 555735). 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- |
RCV000671607 | SCV002027186 | uncertain significance | Wilson disease | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000671607 | SCV004362506 | uncertain significance | Wilson disease | 2023-02-14 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with tryptophan at codon 136 of the ATP7B protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with ATP7B-related disorders in the literature. This variant has been identified in 22/280732 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Natera, |
RCV000671607 | SCV001453799 | uncertain significance | Wilson disease | 2020-09-16 | no assertion criteria provided | clinical testing |