Reported to cause autosomal dominant Parkinson’s disease. This report is recorded in ClinVar, submitted by GeneReviews (http://www.ncbi.nlm.nih.gov/clinvar/RCV000032405/). However, one publication linked by ClinVar, Di Fonzo 2006 (PMID: 16633828) found the variant with equal frequency in cases and controls in a study of Taiwanese cases and controls. According to ExAC, this variant has a much higher allele frequency in east asians (0.58%) where 1 in 90 carry the variant. This strongly contradicts the variant as causing this disease, and this reported effect should be considered disproven.