A: The variant NC_000022.11:g.50627375G>A in gene ARSA is classified as 'Pathogenic' for not_provided|Metachromatic_leukodystrophy|Frontotemporal_dementia. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512|Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282. Review status: criteria provided, multiple submitters, no conflicts.