A: The variant NC_000020.11:g.419394C>A in gene RBCK1 is classified as 'Uncertain_significance' for Polyglucosan_body_myopathy_type_1. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014389,MedGen:C4014605,OMIM:615895,Orphanet:329173,Orphanet:397937. Review status: criteria provided, single submitter.