A: The variant NC_000020.11:g.765456C>T in gene SLC52A3 is classified as 'Uncertain_significance' for Brown-Vialetto-van_Laere_syndrome_1|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530,Orphanet:572543,Orphanet:97229|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.