ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2038_2152dup (p.Asn718delinsSerCysGlyProSerSerGlyIleCysGluGlyMetValTer)

dbSNP: rs1553961598
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531302 SCV000641869 pathogenic Mowat-Wilson syndrome 2017-02-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in ZEB2 are known to be pathogenic (PMID: 16053902). This sequence change inserts 115 nucleotides in exon 8 of the ZEB2 mRNA (c.2038_2152dup), causing a frameshift at codon 718. This creates a premature translational stop signal (p.Asn718Serfs*14) and is expected to result in an absent or disrupted protein product.

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