ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2577dup (p.Leu860fs)

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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 RCV002829541 SCV003217567 pathogenic Mowat-Wilson syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu860Serfs*15) in the ZEB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZEB2 are known to be pathogenic (PMID: 16053902). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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