A: The variant NC_000019.10:g.41424468A>T in gene BCKDHA is classified as 'Pathogenic/Likely_pathogenic' for Maple_syrup_urine_disease|Maple_syrup_urine_disease_type_1A. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511|MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600. Review status: criteria provided, multiple submitters, no conflicts.