A: The variant NC_000019.10:g.54193334C>T in gene TSEN34 is classified as 'Uncertain_significance' for Pontocerebellar_hypoplasia_type_2C. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0012891,MedGen:C2676465,OMIM:612390,Orphanet:2524. Review status: criteria provided, single submitter.