A: The variant NC_000019.10:g.48807070dup in gene BCAT2 is classified as 'Uncertain_significance' for Hypervalinemia_and_hyperleucine-isoleucinemia. Molecular consequence: SO:0001589: frameshift_variant,SO:0001623: 5_prime_UTR_variant,SO:0001627: intron_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0100058,MedGen:C5394277,OMIM:618850. Review status: criteria provided, single submitter.