A: The variant NC_000022.11:g.50085500_50085502dup in gene MLC1 is classified as 'Uncertain_significance' for Megalencephalic_leukoencephalopathy_with_subcortical_cysts. Molecular consequence: SO:0001627: intron_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0011391,MedGen:C1858854,Orphanet:2478. Review status: criteria provided, single submitter.