Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159495 | SCV000209448 | pathogenic | Mowat-Wilson syndrome | 2013-01-04 | criteria provided, single submitter | clinical testing | This mutation is denoted c.3002delG at the cDNA level and p.Cys1001LeufsX74 (C1001LfsX74) at the protein level; it is in exon 9 of the ZEB2 gene (NM_014795.2). The normal sequence with the base that is deleted in braces is: TGCAT{delG}TGACT. The c.3002delG mutation in the ZEB2 gene causes a frameshift starting with codon Cysteine 1001, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 74 of the new reading frame, denoted p.Cys1001LeufsX74. This mutation is predicted to cause loss of normal protein function through protein truncation. Although this mutation has not been previously reported to our knowledge, many other frameshift mutations have been reported in the ZEB2 gene. Therefore, the presence of c.3002delG is consistent with the diagnosis of Mowat-Wilson syndrome, an autosomal dominant disorder. The variant is found in CHILD-EPI panel(s). |