ClinVar

Description

Variant summary: The PRSS1 c.*8A>G variant is located in the 3' UTR causing the alteration of a non-conserved nucleotide. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 3/121358 (1/40453), predominantly in the African cohort, 3/10400 (1/3466), which does exceed the estimated maximal expected allele frequency for a pathogenic PRSS1 variant of 1/200000. Therefore, suggesting the variant is a polymorphism found in population(s) of African origin. However, the database indicates that this observance does not meet the filter threshold (low coverage), along with the cohort containing individuals that could harbor a PRSS1 phenotype, therefore these three observations in the ExAC cohort need to be cautiously considered. In addition, the variant of interest, to our knowledge, has not been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor has it been functionally assessed. Therefore, due to the limited available information, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.