Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001031820 | SCV001195126 | likely pathogenic | Hereditary pancreatitis | 2019-04-22 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the PRSS1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Duplications and triplications of the whole PRSS1 sequence have been reported in individuals affected with idiopathic chronic pancreatitis (PMID: 18063422, 19584086). An increased expression of trypsinogen resulting from an increased gene dosage of PRSS1 is consistent with the current understanding of the role of trypsin in the etiology of chronic pancreatitis. However, the exact genomic location of this variant is unknown, and, consequently, it is not known whether the duplicated copy is expressed. Therefore, it has been classified as Likely Pathogenic. |