Reported segregating in a family with parkinsonian symptoms. The pedigree has a LOD of 1.2 for the variant segregating with the disorder. The variant was not seen in 130 healthy controls, but we cannot report case/control statistics because this is a report of a single case rather than a screen for variant incidence among many cases.
In an examination of POLG variants in Parkinson cases and controls, this was seen in 1 of 140 cases and 5 of 127 controls. The authors conclude the variant is a benign polymorphism.