missense mutation (N78D)
This paper reports a VHL family harboring a novel missense mutation (N78D). Genetic testing was performed using peripheral whole blood, on 9 members of this kindred, which revealed 3 patients carried the above mutation. The 6 members who did not carry the mutation were asymptomatic, while the 3 carriers had manifestations. In addition to the 3 carriers, there was 3 additional kin who had clinical features of VHL, but died before testing could be performed. The clinical manifestations in this kindred included: spinal hemangioblastoma, cerebellar hemangioblastoma, endolymphatic sac tumor, pancreatic cysts, and renal cysts. ACMG evidence codes: 'PP1' because of segregation results, 'PP2' because they observe a missense variant in a gene where missense variants are a common mechanism of disease, 'PP4' because the patient's phenotypes or family history are highly specific for a disease with single genetic etiology.