The gene LOC126806913, OPA1 (BRD4-independent group 4 enhancer GRCh37_chr3:193364377-193365576| OPA1 mitochondrial dynamin like GTPase) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy