PMS2 and Leigh syndrome: So far, several PMS2 disease-causing variants deposited in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar?LinkName=gene_clinvar&from_uid=5395, accessed on 24 June 2025), including nonsense, frameshift, splicing, and missense variants, have been reported to be associated with LS clinical manifestation.