ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter)

dbSNP: rs587784563
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318743 SCV000850088 pathogenic Inborn genetic diseases 2016-07-08 criteria provided, single submitter clinical testing The p.Y652* pathogenic mutation (also known as c.1956C>A), located in coding exon 7 of the ZEB2 gene, results from a C to A substitution at nucleotide position 1956. This changes the amino acid from a tyrosine to a stop codon within coding exon 7. This mutation has been described in a 35-week stillborn male fetus with features consistent with Mowat-Wilson syndrome, including dysmorphic facial features, hypospadias, ventricular septal defect, short corpus callosum, and Hirschsprung disease (Spaggiari E et al. Eur J Med Genet, 2013 Jun;56:297-300). A different nucleotide substitution at the same nucleotide position (c.1956C>G), also resulting in the p.Y652* nonsense mutation, was described in a 19-year-old Indonesian male with Mowat-Wilson syndrome, whose features included severe intellectual disability, hypotonia, onset of seizures at age 2 years, repetitive hand movements, and facial dysmorphism (Mundhofir FE et al. Case Rep Genet, 2012 Dec;2012:949507). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Genetic Services Laboratory, University of Chicago RCV000721184 SCV000852177 pathogenic Mowat-Wilson syndrome 2013-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000721184 SCV002045646 pathogenic Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.