ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2024del (p.Leu675fs)

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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 RCV003035385 SCV003344347 pathogenic Mowat-Wilson syndrome 2024-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu675Argfs*14) 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. ClinVar contains an entry for this variant (Variation ID: 2123376). For these reasons, this variant has been classified as Pathogenic.

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