Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000670652 | SCV001206142 | likely pathogenic | Wilson disease | 2024-01-24 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 196 of the ATP7B protein (p.Asp196Glu). This variant is present in population databases (rs756718353, gnomAD 0.02%). This missense change has been observed in individual(s) with Wilson disease (PMID: 24119323, 26483271, 30702195). ClinVar contains an entry for this variant (Variation ID: 554931). 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 with a negative predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Genome- |
RCV000670652 | SCV001977194 | likely pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000670652 | SCV000795534 | uncertain significance | Wilson disease | 2017-11-09 | flagged submission | clinical testing | |
Natera, |
RCV000670652 | SCV002087899 | likely pathogenic | Wilson disease | 2021-05-21 | no assertion criteria provided | clinical testing |