Submissions for variant NM_014795.4(ZEB2):c.289del (p.Trp97fs)

dbSNP: rs727503784

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000157060	SCV000209452	pathogenic	Mowat-Wilson syndrome	2014-06-11	criteria provided, single submitter	clinical testing	This mutation is denoted as c.289delT at the cDNA level and p.Trp97GlyfsX11 at the protein level; it is in exon 3 in the ZEB2 gene (NM_014795.3). The normal sequence with the base that is deleted in braces is: ACCCC{T}GGCA. The c.289delT mutation in the ZEB2 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. The c.289delT mutation in the ZEB2 gene causes a frameshift starting with codon Tryptophan 97, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Trp97GlyfsX11. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.289delT mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.289delT as a disease-causing mutation, and its presence is consistent with a diagnosis of Mowat-Wilson syndrome, an autosomal dominant disorder. This variant has been observed de novo with confirmed parentage. The variant is found in INFANT-EPI panel(s).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000157060	SCV001234659	pathogenic	Mowat-Wilson syndrome	2021-08-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000157060	SCV002045656	pathogenic	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Mendelics	RCV000157060	SCV000199327	pathogenic	Mowat-Wilson syndrome	2014-11-09	no assertion criteria provided	clinical testing