Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV004579455 | SCV005063456 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2023-07-17 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the JAG1 gene has been identified. Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599). 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 Alagille syndrome (PMID: 10213047, 16575836, 19058200, 22382802). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV004579456 | SCV005063467 | pathogenic | Developmental and epileptic encephalopathy, 12 | 2023-03-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. A gross deletion of the genomic region encompassing the full coding sequence of the PLCB1 gene has been identified. Loss-of-function variants in PLCB1 are known to be pathogenic (PMID: 24684524). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with PLCB1-related conditions. |