A: The variant NC_000021.9:g.31667372GGT[1] in gene SOD1 is classified as 'Likely_pathogenic' for Spastic_tetraplegia_and_axial_hypotonia,_progressive. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0032828,MedGen:C5231422,OMIM:618598. Review status: criteria provided, single submitter.