Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670965 | SCV000795895 | uncertain significance | Wilson disease | 2017-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670965 | SCV001228810 | uncertain significance | Wilson disease | 2019-12-30 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with serine at codon 1355 of the ATP7B protein (p.Gly1355Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Wilson disease (PMID: 8938442). ClinVar contains an entry for this variant (Variation ID: 555192). 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- |
RCV000670965 | SCV002027147 | uncertain significance | Wilson disease | 2021-09-05 | criteria provided, single submitter | clinical testing |