Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001819397 | SCV002067582 | uncertain significance | not specified | 2018-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003611561 | SCV004533203 | uncertain significance | Mowat-Wilson syndrome | 2023-08-29 | criteria provided, single submitter | clinical testing | An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 1336911). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 905 of the ZEB2 protein (p.Pro905Leu). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. |