Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807249 | SCV000947292 | likely pathogenic | Hereditary pancreatitis | 2018-11-19 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 3-5 of the PRSS1 gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. Similar copy number gains of exons 3-5 in PRSS1 have been observed to segregate with chronic pancreatitis in two families (PMID: 18461367, Invitae), but there is a limitation in determining the exact extent of these events. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |