Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159494 | SCV000209447 | pathogenic | Mowat-Wilson syndrome | 2014-06-03 | criteria provided, single submitter | clinical testing | This mutation is known as c.2228_2229delCT at the cDNA level and p.Ser743TyrfsX12 (S743YfsX12) at the protein level; it is in exon 8 of the ZEB2 gene (NM_014795.3). The normal sequence with the bases that are deleted in braces is: CCAT{CT}ATAG. The c.2228_2229delCT mutation in the ZEB2 gene causes a frameshift starting with codon Serine 743, changes this amino acid to a Tyrosine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Ser743TyrfsX12. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, its presence is consistent with the diagnosis of Mowat-Wilson Syndrome, an autosomal dominant disorder. The variant is found in EPILEPSY panel(s). |