ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3025C>T (p.Gln1009Ter)

dbSNP: rs1560604977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693407 SCV000821275 pathogenic Mowat-Wilson syndrome 2018-03-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A different truncation(p.Cys1032Leufs*43) that lies downstream of this variant has been determined to be pathogenic (Invitae). This suggests that deletion of this region of the ZEB2 protein is causative of disease. This variant has not been reported in the literature in individuals with ZEB2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the ZEB2 gene (p.Gln1009*). While this is not anticipated to result in nonsense mediated decay, it is expected to deletes the last 206 amino acids of the ZEB2 protein.

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