A: The variant NC_000020.11:g.34291417_34291418delinsCG in gene AHCY is classified as 'Likely_pathogenic' for Hypermethioninemia_with_deficiency_of_S-adenosylhomocysteine_hydrolase. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0013404,MedGen:C3151058,OMIM:613752,Orphanet:88618. Review status: criteria provided, single submitter.