ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2179_2180del (p.Leu727fs)

dbSNP: rs786204810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000169709 SCV002229732 pathogenic Mowat-Wilson syndrome 2024-06-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu727Ilefs*28) 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: 11592033, 19842203). This variant is also known as c.2178delTT (p.Leu727fs754X) and p.L727fs. ClinVar contains an entry for this variant (Variation ID: 189276). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics RCV000169709 SCV000221247 pathogenic Mowat-Wilson syndrome 2015-03-02 no assertion criteria provided clinical testing

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