A: The variant NC_000021.9:g.45531704AGA[1] in gene SLC19A1 is classified as 'Uncertain_significance' for not_provided|Megaloblastic_anemia,_folate-responsive. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Microsatellite. Disease database links: MedGen:C3661900|Human_Phenotype_Ontology:HP:0004851,MONDO:MONDO:0011141,MedGen:C2749656,OMIM:601775. Review status: criteria provided, single submitter.