Consider this mutation in GCDH, LOC126862860, SYCE2 (glutaryl-CoA dehydrogenase| BRD4-independent group 4 enhancer GRCh37_chr19:13010146-13011345| synaptonemal complex central element protein 2) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; Glutaric aciduria, type 1