The splice donor site variant of c.115+1G>A, miscalled using short-read sequence analysis in Case 4, is known to be a pathogenic variant for Gaucher disease and associated with an increased risk of developing PD in the Ashkenazi Jewish population via exon 2 skipping of glucocerebrosidase mRNA [8, 9, 30]. The gene discussed is GBA1; the disease is Gaucher disease.