A survey of biocurators in ClinGen's Inborn Errors of Metabolism Working Group's Variant Curation Expert Panels for the purpose of refining the ACMG/AMP specifications for autosomal recessive disease.

Genetic variants are found in all genes. To find out how a given genetic variant may affect health, doctors and researchers need to figure out whether a given variant can cause disease (pathogenic) or not (benign). A set of guidelines published by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP) was published in 2015 in order to help. However, these guidelines are very general. The Clinical Genome Resource has formed groups of experts and biocurators (known as Variant Curation Expert Panels, VCEPs) to adapt the ACMG/AMP guidelines for different diseases. We are surveying biocurators from VCEPs working on inborn errors of metabolism (IEMs) to find out which part of the guidelines are difficult for them. Based on the results, we will write more guidelines to help doctors and researchers figure out whether a genetic variant may cause a disease.