33 patients diagnosed with VHL disease, according to (Maher et al. 1990), were tested for germline VHL mutations. Genetic testing was performed on high-molecular-weight DNA from peripheral blood using Southern analysis and PCR. One patient was found to harbour the 508G>T (Val170Phe) VHL gene mutation, documented in the paper as 721G>T due to a difference in transcript sequence. This patient presented with a cerebellar hemangioblastoma. As well, a somatic mutation presenting in their tumor as p.N193M*9 (c.576del13). ACMG evidence codes: 'PP4' since the patient presents phenotypes highly specific for a disease with a single genetic etiology.