Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147997 | SCV000195494 | pathogenic | Mowat-Wilson syndrome | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000523611 | SCV000617356 | pathogenic | not provided | 2017-09-28 | criteria provided, single submitter | clinical testing | The c.2501delA variant in the ZEB2 gene has been reported previously in a patient with Mowat-Wilson syndrome, however, additional clinical and familial segregation information was not provided (Dastot-Le et al., 2007). The c.2501delA variant causes a frameshift starting with codon Lysine 834, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Lys834ArgfsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2501delA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2501delA as a pathogenic variant. |
Genome- |
RCV000147997 | SCV002045644 | pathogenic | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing |