5 cases treated for thoracic paraganglioma in Freiburg, Germany aged 6–70 at the time of diagnosis were identified and had germline VHL mutations identified using constitutional genomic DNA from blood samples. The mutation p.Gly93Ser (legacy notation c.490G>A converted to c.277G>A) was found in case 3, a 6Y boy with thoracic paraganglioma. His parents were negative for the mutation, supporting de novo germline mutatation. ACMG: PM6