Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001903414 | SCV002170063 | uncertain significance | Mowat-Wilson syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1404810). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. This variant is present in population databases (rs535673534, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 61 of the ZEB2 protein (p.Ser61Cys). 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. |