A: The variant NC_000019.10:g.48970708_48970710del in gene GYS1 is classified as 'Pathogenic' for Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0012693,MedGen:C1969054,OMIM:611556,Orphanet:137625. Review status: criteria provided, single submitter.