Thomas et al. [35] identified this missense mutation in an adult patient with ADPKD, but the observed variant frequency within non-Finnish European control individuals in the gnomAD database is approximately eight times the estimated maximal expected allele frequency for a pathogenic variant in PKD1 causing Polycystic Kidney Disease 1 phenotype. This evidence concerns the gene PKD1 and autosomal dominant polycystic kidney disease.