A: The variant NC_000019.10:g.48799825A>C in gene BCAT2 is classified as 'Pathogenic' for Hypervalinemia_and_hyperleucine-isoleucinemia. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0100058,MedGen:C5394277,OMIM:618850. Review status: no assertion criteria provided.