ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.980C>A (p.Ser327Ter)

dbSNP: rs756686919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180324 SCV000232735 pathogenic not provided 2015-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000180324 SCV002574154 likely pathogenic not provided 2022-03-17 criteria provided, single submitter clinical testing Reported in an individual with Mowat-Wilson syndrome in published literature (Dastot-Le Moal et al., 2007); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 17203459)

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