Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002877189 | SCV003238288 | pathogenic | Holoprosencephaly 5 | 2022-10-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ZIC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly241Valfs*16) in the ZIC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZIC2 are known to be pathogenic (PMID: 19177455). |