Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001043762 | SCV001207523 | uncertain significance | Mowat-Wilson syndrome | 2022-04-23 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 841521). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 903 of the ZEB2 protein (p.Ala903Thr). |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV001043762 | SCV004047999 | uncertain significance | Mowat-Wilson syndrome | criteria provided, single submitter | clinical testing | The missense c.2707G>A (p.Ala903Thr) variant in ZEB2 gene has been submitted to ClinVar as a Variant of Uncertain Significance, but no details are available for independent assessment. It has not been reported in affected individuals. The variant is observed in 0.0003% alleles in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The amino acid Ala at position 903 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ala903Thr in ZEB2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance |