A: The variant NC_000021.9:g.46145831GCC[2] in gene FTCD is classified as 'Uncertain_significance' for Glutamate_formiminotransferase_deficiency. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208. Review status: criteria provided, single submitter.