A: The variant NC_000019.10:g.49861775_49861776insGGG in gene PNKP is classified as 'Uncertain_significance' for Developmental_and_epileptic_encephalopathy,_12. Molecular consequence: SO:0001821: inframe_insertion. Variant type: Insertion. Disease database links: MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722. Review status: criteria provided, single submitter.