Submissions for variant NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del)

dbSNP: rs730881214

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000159497	SCV000209450	uncertain significance	Mowat-Wilson syndrome	2012-11-26	criteria provided, single submitter	clinical testing	This variant is denoted c.82_87delTATGAC at the cDNA level and p.Tyr28_Asp29del (Y28_D29del) at the protein level; it is in exon 3 of the ZEB2 gene (NM_014795.2). The normal sequence with the bases that are deleted in braces is: GAAC{TATGAC}AATG. The c.82_87delTATGAC change has not been published as a mutation nor has it been reported as a benign polymorphism, to our knowledge. It has not been identified in the 1000 Genomes Project, indicating that it is not a common benign variant. It results in an in-frame deletion of two amino acids (Tyr28 and Asp29) within a region of the ZEB2 protein that is well conserved in mammals, but not in a known structural or functional domain. The vast majority of mutations in the ZEB2 gene associated with Mowat-Wilson syndrome are frameshift and nonsense mutations (Garavelli et al., 2009). Therefore, based on the currently available information, it is unclear whether c.82_87delTATGAC is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).
Invitae	RCV000159497	SCV000956600	likely benign	Mowat-Wilson syndrome	2023-10-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000159497	SCV002045616	likely benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000159497	SCV003826105	uncertain significance	Mowat-Wilson syndrome	2019-07-12	criteria provided, single submitter	clinical testing