Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159493 | SCV000209446 | pathogenic | not provided | 2013-06-18 | criteria provided, single submitter | clinical testing | The c.1919delT pathogenic variant in the ZEB2 gene causes a frameshift starting with codon Serine 641, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ser641LeufxX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, its presence is consistent with a diagnosis of Mowat-Wilson syndrome, an autosomal dominant syndrome. |