A: The variant NC_000021.9:g.43774689T>C in gene CSTB is classified as 'Uncertain_significance' for Progressive_myoclonic_epilepsy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261. Review status: criteria provided, single submitter.