Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002791400 | SCV003200511 | pathogenic | Holoprosencephaly 5 | 2022-08-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ZIC2 protein in which other variant(s) (p.Lys400_Tyr402delinsAsn) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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 variant, c.1199_1207del, results in the deletion of 3 amino acid(s) of the ZIC2 protein (p.Lys400_Tyr402del), but otherwise preserves the integrity of the reading frame. |