Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003109612 | SCV003791602 | pathogenic | Holoprosencephaly 5 | 2022-05-14 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the ZIC2 gene has been identified. Loss-of-function variants in ZIC2 are known to be pathogenic (PMID: 19177455). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with holoprosencephaly (PMID: 19955556). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. |