Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530008 | SCV000631836 | pathogenic | Proline dehydrogenase deficiency | 2021-07-29 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the PRODH gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has been reported in a single family affected with hyperprolinemia and schizophrenia (PMID: 12217952). Loss-of-function variants in PRODH are known to be pathogenic (PMID: 12525555, 15662599). For these reasons, this variant has been classified as Pathogenic. |