A: The variant NC_000019.10:g.41423139_41423167del in gene BCKDHA is classified as 'Uncertain_significance' for Maple_syrup_urine_disease_type_1A. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600. Review status: criteria provided, single submitter.