A: The variant NC_000020.11:g.45892724G>C in gene CTSA is classified as 'Likely_pathogenic' for Combined_deficiency_of_sialidase_AND_beta_galactosidase. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009737,MedGen:C0268233,OMIM:256540,Orphanet:351. Review status: criteria provided, single submitter.