ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2122del (p.Leu708fs)

dbSNP: rs2149876829
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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 RCV001974867 SCV002214416 pathogenic Mowat-Wilson syndrome 2021-03-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ZEB2-related conditions. This sequence change creates a premature translational stop signal (p.Leu708Trpfs*8) 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 (ExAC no frequency).

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