A: The variant NC_000020.11:g.36951639_36951641dup in gene SAMHD1 is classified as 'Uncertain_significance' for Aicardi-Goutieres_syndrome_5|Aicardi_Goutieres_syndrome. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001821: inframe_insertion. Variant type: Duplication. Disease database links: MONDO:MONDO:0013059,MedGen:C2749659,OMIM:612952,Orphanet:51|MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51. Review status: criteria provided, single submitter.