Nine Chinese index patients were referred for the molecular analysis of VHL based on clinical suspicion. PCR and MLPA were performed on whole blood. Proband 4 was diagnosed with VHL type 1, and had an intronic c.463+1G>T mutation in the VHL gene. This mutation was predicted in the paper by in silico analysis to abolish the normal donor splice site. The proband presented with a CNS hemangioblastoma at age 26, and renal cell carcinoma at age 43. They did not have any family history of VHL disease; their son and daughter both did not have the mutation and were asymptomatic.