Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003120764 | SCV003790869 | uncertain significance | Alagille syndrome due to a JAG1 point mutation | 2022-06-17 | criteria provided, single submitter | clinical testing | A copy number gain of the genomic region encompassing the full coding sequence of the JAG1 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. Isolated whole-gene copy number gains of JAG1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 32733715). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |