Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel

Purpose: This study, conducted by the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (ClinGen SCID-VCEP), aimed to adapt the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) framework for germline variant interpretation in RMRP. Unlike the protein-coding genes for which the framework was primarily developed, RMRP encodes a non-protein-coding RNA. Biallelic pathogenic variants in RMRP cause cartilage-hair hypoplasia, which can include severe combined immunodeficiency disease and other immune abnorma

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