ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2717del (p.Pro906fs)

dbSNP: rs2149876411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001647334 SCV001737524 pathogenic Mowat-Wilson syndrome 2021-03-06 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001647334 SCV002243429 pathogenic Mowat-Wilson syndrome 2021-02-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro906Leufs*24) in 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 (PMID: 16053902). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Mowat-Wilson sydrome (PMID: 27831545). This variant is also known as c.2713delC. For these reasons, this variant has been classified as Pathogenic.
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia RCV001647334 SCV004231883 pathogenic Mowat-Wilson syndrome 2023-10-20 criteria provided, single submitter clinical testing Heterozygous variant associated with Mowat-Wilson syndrome in at least 1 individual. ACMG/AMP criteria PVS1, PS2, PM2, PP4

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