A: The variant NC_000020.11:g.420913C>T in gene RBCK1 is classified as 'Pathogenic/Likely_pathogenic' for Polyglucosan_body_myopathy_1_without_immunodeficiency|Polyglucosan_body_myopathy_type_1. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C4017232|MONDO:MONDO:0014389,MedGen:C4014605,OMIM:615895,Orphanet:329173,Orphanet:397937. Review status: no assertion criteria provided.