A: The variant NC_000019.10:g.45352805C>T in gene ERCC2 is classified as 'Uncertain_significance' for Trichothiodystrophy_1,_photosensitive. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675,Orphanet:33364,Orphanet:670. Review status: criteria provided, single submitter.