A: The variant NC_000019.10:g.17337628G>A in gene GTPBP3 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|See_cases. Molecular consequence: SO:0001587: nonsense,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|.. Review status: criteria provided, multiple submitters, no conflicts.