ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.71dup (p.Asn24fs)

dbSNP: rs1553971826
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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 RCV000677409 SCV003324024 pathogenic Mowat-Wilson syndrome 2022-03-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 559637). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn24Lysfs*6) 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).
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000677409 SCV000803713 pathogenic Mowat-Wilson syndrome 2018-03-22 no assertion criteria provided clinical testing

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