ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.696C>A (p.Tyr232Ter)

dbSNP: rs1060503990
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390191 SCV001591828 pathogenic Mowat-Wilson syndrome 2020-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr232*) in the ZEB2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ZEB2 are known to be pathogenic (PMID: 16053902). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This nonsense change has been observed in individual(s) with Mowat-Wilson syndrome (PMID: 16053902, 27831545, 28501473).

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