PKD1 and polycystic kidney disease: Due to the finding of multiple cysts in his kidneys, the patient was referred for genetic testing and underwent testing of genes associated with polycystic kidneys: GANAB, HNK1B, PKD1, PKD2, PKHD, and PRKCSH. He was identified a c.11713-5C > A intronic variant considered a variant of unknown significance (VUS) in the PKD1 gene.