ClinVar Miner

Submissions for variant NM_001174096.2(ZEB1):c.3G>A (p.Met1Ile)

dbSNP: rs1554797626
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579251 SCV000680841 pathogenic not provided 2016-04-20 criteria provided, single submitter clinical testing The c.3 G>A pathogenic variant in the ZEB1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3 G>A 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. As this pathogenic variant changes the translation initiator Methionine codon, the resultant protein is described as p.Met1?, using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. Two other variants in the Met1 position (c.1A>G and c.2T>G) have been reported in the Human Gene Mutation Database in association with posterior polymorphous corneal dystrophy (Stenson et al., 2014). We interpret c.3 G>A as a pathogenic variant. This variant has been seen apparently de novo.
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV003991031 SCV004808394 likely pathogenic Posterior polymorphous corneal dystrophy 3; Corneal dystrophy, Fuchs endothelial, 6 2023-05-23 no assertion criteria provided clinical testing

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