Given this context: Chromosome 19, gene GCDH, LOC126862860, SYCE2 (glutaryl-CoA dehydrogenase| BRD4-independent group 4 enhancer GRCh37_chr19:13010146-13011345| synaptonemal complex central element protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Glutaric aciduria, type 1