A: The variant NC_000022.11:g.50625578C>T in gene ARSA is classified as 'Pathogenic' for not_provided|Metachromatic_leukodystrophy|Metachromatic_leukodystrophy,_juvenile_type. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512|MONDO:MONDO:0009591,MedGen:C0751276,Orphanet:309263. Review status: criteria provided, multiple submitters, no conflicts.