A: The variant NC_000021.9:g.45530879C>T in gene SLC19A1 is classified as 'Pathogenic' for Immunodeficiency_114,_folate-responsive. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0957955,MedGen:C5882719,OMIM:620603. Review status: no assertion criteria provided.