PKD1 and autosomal dominant polycystic kidney disease: In one family (BO-217), the c.2766_2768 + 1del variant was not present in the affected mother who had a classic ADPKD phenotype (multiple cysts in kidney and liver, ESRD at 55 years), but no variants were identified in PKD1 or PKD2; she was found to carry an ALG8 variant (p.Thr327Arg), absent in the proband, but this SNV cannot be definitely associated to the phenotype at the moment (it is classified as VUS with a CADD score benign moderate [21.7]).