ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.351T>A (p.Tyr117Ter)

dbSNP: rs1560618505
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687795 SCV000815382 pathogenic Mowat-Wilson syndrome 2017-09-27 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 not been reported in the literature in individuals with ZEB2-related disease. However, a different nucleotide change, c.349_350del, that results in the same premature translational stop signal (p.Tyr117*) has been reported in an individual affected with Mowat-Wilson syndrome (PMID: 17203459). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr117*) in the ZEB2 gene. It is expected to result in an absent or disrupted protein product.

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