ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1434C>A (p.Cys478Ter)

dbSNP: rs756778602
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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 RCV001050055 SCV001214143 pathogenic Mowat-Wilson syndrome 2019-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys478*) in the ZEB2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ZEB2-related conditions. Loss-of-function variants in ZEB2 are known to be pathogenic (PMID: 16053902). For these reasons, this variant has been classified as Pathogenic.

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