ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2769C>A (p.Tyr923Ter)

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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 RCV003504518 SCV004293385 pathogenic Mowat-Wilson syndrome 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr923*) 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 premature translational stop signal has been observed in individual(s) with clinical features of Mowat-Wilson syndrome (PMID: 27848944). For these reasons, this variant has been classified as Pathogenic.

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