ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter)

dbSNP: rs797046122
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192869 SCV000249491 pathogenic Mowat-Wilson syndrome 2014-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000406872 SCV000330699 pathogenic not provided 2016-07-29 criteria provided, single submitter clinical testing The S225X pathogenic variant in the ZEB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S225X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret S225X as a pathogenic variant.
Genome-Nilou Lab RCV000192869 SCV002045654 pathogenic Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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