Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668408 | SCV000793002 | uncertain significance | Wilson disease | 2017-08-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668408 | SCV001494330 | uncertain significance | Wilson disease | 2021-08-29 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with proline at codon 933 of the ATP7B protein (p.Thr933Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with Wilson disease (PMID: 9671269, 23518715; Invitae). ClinVar contains an entry for this variant (Variation ID: 553038). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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- |
RCV000668408 | SCV002027164 | uncertain significance | Wilson disease | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000668408 | SCV002780696 | uncertain significance | Wilson disease | 2022-04-02 | criteria provided, single submitter | clinical testing |