ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3195dup (p.His1066fs)

dbSNP: rs730881213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159496 SCV000209449 pathogenic Mowat-Wilson syndrome 2013-01-11 criteria provided, single submitter clinical testing This mutation is denoted c.3195dupA at the cDNA level and p.His1066ThrfsX58 (H1066TfsX58) at the protein level; it is in exon 10 of the ZEB2 gene (NM_014795.2). The normal sequence with the base that is duplicated in braces is: TCTC{A}CACT. The c.3195dupA mutation in the ZEB2 gene causes a frameshift starting with codon Histidine 1066, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 58 of the new reading frame, denoted p.His1066ThrfsX58. This mutation is predicted to cause loss of normal protein function through protein truncation. Although this mutation has not been previously reported to our knowledge, other frameshift mutations have been reported in this region of the protein. Therefore, the presence of c.3195dupA is consistent with the diagnosis of Mowat-Wilson syndrome, an autosomal dominant disorder. The variant is found in CHILD-EPI panel(s).

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