A: The variant NC_000022.11:g.50627374C>T in gene ARSA is classified as 'Pathogenic' for Metachromatic_leukodystrophy|not_provided|METACHROMATIC_LEUKODYSTROPHY,_LATE-ONSET. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512|MedGen:C3661900|MedGen:C4017093. Review status: criteria provided, multiple submitters, no conflicts.