ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.379del (p.Gln127fs)

dbSNP: rs886041489
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000281329 SCV000330153 pathogenic not provided 2016-01-20 criteria provided, single submitter clinical testing The c.379delC pathogenic variant in the ZEB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.379delC variant causes a frameshift starting with codon Glutamine 127, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Gln127ArgfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.379delC 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. We interpret c.379delC as a pathogenic variant.

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