ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2100C>G (p.Tyr700Ter)

dbSNP: rs1057518156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413462 SCV000491592 pathogenic not provided 2016-10-25 criteria provided, single submitter clinical testing The nonsense Y700X variant in the ZEB2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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