Among these six variants, c.868C>T (p. [Arg290Cys]) within the POLG gene was predicted to have some pathogenic effect, such as Leigh syndrome, based on the GATK analysis pipeline (https://gatk.broadinstitute.org, accessed on 13 February 2021) and the highest-rank score for pathogenicity prediction using in silico prediction tools (Figure 3B). The gene discussed is POLG; the disease is Leigh syndrome.