Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000468352 | SCV000552150 | uncertain significance | Hereditary pancreatitis | 2023-05-05 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 411135). This variant has not been reported in the literature in individuals affected 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 gnomAD database. This sequence change affects codon 151 of the PRSS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PRSS1 protein. It affects a nucleotide within the consensus splice site. |
| ARUP Laboratories, |
RCV000507889 | SCV000604928 | likely benign | not specified | 2016-11-11 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000468352 | SCV001184428 | likely benign | Hereditary pancreatitis | 2018-04-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |