ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1257del (p.Gly421fs)

dbSNP: rs786204801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003390885 SCV004119734 pathogenic ZEB2-related disorder 2022-11-30 criteria provided, single submitter clinical testing The ZEB2 c.1257delG variant is predicted to result in a frameshift and premature protein termination (p.Gly421Glufs*6). This variant was reported in an individual with a clinical suspicion of Mowat-Wilson syndrome (Saunders et al 2009. PubMed ID: 19842203). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in ZEB2 are expected to be pathogenic. This variant is interpreted as pathogenic.
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics RCV000169696 SCV000221232 pathogenic Mowat-Wilson syndrome 2015-03-02 no assertion criteria provided clinical testing

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