Total submissions: 1
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. |