43 Italian patients were molecularly analyzed for Von Hippel-Lindau disease based on clinical suspicion. 1 (patient VHL-7) of the 43 patients was found to have the Arg167Serfs*5 (c.499_504delinsT) germline mutation of the VHL gene. Genotyping was performed on peripheral blood executed via direct sequencing on an automatic sequencer and real time quantitative PCR. Clinical manifestations associated with this mutation include: renal cell carcinoma, retinal hemangioblastoma, and renal cysts. ACMG evidence codes: 'PVS1' because they observe a frameshift variant in a gene where loss of function is a known mechanism of disease.