ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) (rs137852981)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000213082 SCV000113591 pathogenic not provided 2014-04-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000005021 SCV000195489 pathogenic Mowat-Wilson syndrome 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000213082 SCV000209428 pathogenic not provided 2018-07-24 criteria provided, single submitter clinical testing This is a nonsense variant, denoted p.Arg695Stop at the protein level and c.2083 C>T at the cDNA level. The substitution creates a nonsense variant, changing an Arginine to a premature stop codon (CGA>TGA) in exon 8 in the ZEB2 gene (NM_014795.3). It has been reported previously in association with ZEB2 deficiency in several patients with clinical presentations consistent with Mowat-Wilson syndrome (Yamada et al., 2001; Pons et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R695X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R695X as a disease-causing variant.
Fulgent Genetics,Fulgent Genetics RCV000005021 SCV000611336 pathogenic Mowat-Wilson syndrome 2017-05-18 criteria provided, single submitter clinical testing
Invitae RCV000005021 SCV000641870 pathogenic Mowat-Wilson syndrome 2017-03-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 695 (p.Arg695*) of the ZEB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZEB2 are known to be pathogenic. This particular variant has been reported in the literature in many individuals affected with Mowat-Wilson syndrome or related set of phenotypes (PMID: 11279515, 11592033, 15908750, 17958891, 19842203, 24401652, 26993267). In most of these cases, the variant was reported as de novo variants. This gene is also known as SIP1 and ZFHX1B in the literature. For these reasons, this variant has been classified as Pathogenic.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000005021 SCV000778534 pathogenic Mowat-Wilson syndrome 2018-03-27 criteria provided, single submitter research
Baylor Genetics RCV000005021 SCV000807292 pathogenic Mowat-Wilson syndrome 2017-09-01 criteria provided, single submitter clinical testing This variant was previously reported as pathogenic and was found once in our laboratory in a 17-year-old male with intellectual disability, absent speech, epilepsy, self-injury, aortic stenosis, hypospadias, Hirschsprung disease, quadriplegic cerebral palsy.
Institute for Genomic Statistics and Bioinformatics,University Hospital Bonn RCV000005021 SCV000999310 pathogenic Mowat-Wilson syndrome criteria provided, single submitter clinical testing
OMIM RCV000005021 SCV000025197 pathogenic Mowat-Wilson syndrome 2001-12-01 no assertion criteria provided literature only
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics RCV000005021 SCV000221248 pathogenic Mowat-Wilson syndrome 2015-03-02 no assertion criteria provided clinical testing

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