At present, the PUS1 upstream region is annotated with seven pathogenic or likely pathogenic variants in ClinVar, most of which have been added since it was tagged as part of the MANE Select transcript and none of which have any support, save that they are high impact variants and are present in a gene known to play a role in a rare mitochondrial myopathy [45]. The gene discussed is PUS1; the disease is Mitochondrial myopathy.