ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3213_3214insGG (p.Gln1072fs)

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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 RCV003612649 SCV004409609 pathogenic Mowat-Wilson syndrome 2023-08-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ZEB2 protein in which other variant(s) (p.Gln1119Arg) have been determined to be pathogenic (PMID: 16688751). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1072Glyfs*4) in the ZEB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 143 amino acid(s) of the ZEB2 protein.

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