Although mainly missense substitutions at the surface of pVHL are thought to cause type 2 disease (predominantly PPGL) (Stebbins et al. 1999, Ong et al. 2007), we were still surprised by the distinct type 1 phenotype (ccRCC and Hbl) of the missense mutation p.Asn78Ser (a ‘deep’ missense mutation located at the protein core) (Ong et al. 2007) contributed by nine centers from eight countries. The gene discussed is VHL; the disease is nonpapillary renal cell carcinoma.