ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2501del (p.Lys834fs)

dbSNP: rs587784565
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147997 SCV000195494 pathogenic Mowat-Wilson syndrome 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000523611 SCV000617356 pathogenic not provided 2017-09-28 criteria provided, single submitter clinical testing The c.2501delA variant in the ZEB2 gene has been reported previously in a patient with Mowat-Wilson syndrome, however, additional clinical and familial segregation information was not provided (Dastot-Le et al., 2007). The c.2501delA variant causes a frameshift starting with codon Lysine 834, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Lys834ArgfsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2501delA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2501delA as a pathogenic variant.
Genome-Nilou Lab RCV000147997 SCV002045644 pathogenic Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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