It was first reported as a VUS by Thorleifsson et al. (2009) in a large Iceland/Netherlands GWAS cohort study examining SNPs associated with kidney stones and bone mineral density and more recently by Toka et al. (2013), who detected the CLDN14 p.(Ala163Val) allele in 3 of 1230 study participants for another kidney function study. The gene discussed is CLDN14; the disease is nephrolithiasis.