Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001877747 | SCV002138524 | uncertain significance | Hereditary pancreatitis | 2021-09-29 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals with PRSS1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Phe18Leufs*24) in the PRSS1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PRSS1 cause disease. |
| Ambry Genetics | RCV001877747 | SCV002650167 | uncertain significance | Hereditary pancreatitis | 2024-02-15 | criteria provided, single submitter | clinical testing | The c.54delT variant, located in coding exon 2 of the PRSS1 gene, results from a deletion of one nucleotide at nucleotide position 54, causing a translational frameshift with a predicted alternate stop codon (p.F18Lfs*24). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of PRSS1 has not been clearly established as a mechanism of disease. Based on the available evidence, the clinical significance of this alteration remains unclear. |