ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1921del (p.Ser641fs)

dbSNP: rs730881209
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159493 SCV000209446 pathogenic not provided 2013-06-18 criteria provided, single submitter clinical testing The c.1919delT pathogenic variant in the ZEB2 gene causes a frameshift starting with codon Serine 641, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ser641LeufxX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, its presence is consistent with a diagnosis of Mowat-Wilson syndrome, an autosomal dominant syndrome.

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