ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1077_1081del (p.Ser360fs)

dbSNP: rs1703290664
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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 RCV001218547 SCV001390434 pathogenic Mowat-Wilson syndrome 2019-04-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ZEB2 are known to be pathogenic (PMID: 16053902). This variant has been observed to be de novo in an individual affected with clinical features of Mowat-Wilson syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser360Tyrfs*2) in the ZEB2 gene. It is expected to result in an absent or disrupted protein product.
GenomeConnect - Brain Gene Registry RCV001218547 SCV004012834 not provided Mowat-Wilson syndrome no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 05-01-2019 by Lab Invitae . Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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