A: The variant NC_000020.11:g.46592528_46592531del in gene SLC13A3 is classified as 'Likely_pathogenic' for Leukoencephalopathy,_acute_reversible,_with_increased_urinary_alpha-ketoglutarate. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0032716,MedGen:C5193068,OMIM:618384,Orphanet:615964. Review status: criteria provided, single submitter.