Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001324350 | SCV001515301 | uncertain significance | Hereditary pancreatitis | 2020-05-03 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRSS1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 sequence change replaces serine with proline at codon 124 of the PRSS1 protein (p.Ser124Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline. |
| Ambry Genetics | RCV001324350 | SCV005147971 | uncertain significance | Hereditary pancreatitis | 2024-05-11 | criteria provided, single submitter | clinical testing | The p.S124P variant (also known as c.370T>C), located in coding exon 3 of the PRSS1 gene, results from a T to C substitution at nucleotide position 370. The serine at codon 124 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |