A: The variant NC_000019.10:g.54129332T>C in gene PRPF31 is classified as 'Uncertain_significance' for Leber_congenital_amaurosis. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65. Review status: no assertion criteria provided.