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
Invitae RCV000169709 SCV002229732 pathogenic Mowat-Wilson syndrome 2021-11-26 criteria provided, single submitter clinical testing This variant is also known as c.2178delTT (p.Leu727fs754X) and p.L727fs. This premature translational stop signal has been observed in individual(s) with clinical features of Mowat-Wilson syndrome (PMID: 11592033, 19842203). This variant is not present in population databases (gnomAD no frequency). 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). 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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