A: The variant NC_000020.11:g.3218633del in gene ITPA is classified as 'Pathogenic/Likely_pathogenic' for Inosine_triphosphatase_deficiency|Developmental_and_epileptic_encephalopathy,_35. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850|MONDO:MONDO:0014719,MedGen:C4225256,OMIM:616647,Orphanet:457375. Review status: criteria provided, multiple submitters, no conflicts.