ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.760_761del (p.Thr254fs)

dbSNP: rs587776605
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522940 SCV000620300 pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing The c.760_761delAC variant in the ZEB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.760_761delAC variant causes a frameshift starting with codon Threonine 254, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Thr254ProfsX25. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.760_761delAC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.760_761delAC as a pathogenic variant.

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