A: The variant NC_000019.10:g.45351722C>T in gene ERCC2 is classified as 'Pathogenic' for Trichothiodystrophy_1,_photosensitive. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675,Orphanet:33364,Orphanet:670. Review status: no assertion criteria provided.