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Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss
Andrea M Oza,
Marina T. DiStefano,
Sarah E Hemphill,
Brandon J Cushman,
Andrew R. Grant,
Rebecca K Siegert,
Nicole J. Boczek,
Lisa A Schimmenti,
Jaclyn B. Murry,
Kevin T Booth,
Karen B. Avraham,
Heidi L Rehm,
Sami S Amr,
Ahmad N Abou Tayoun,
ClinGen Hearing Loss Clinical Domain Working Group
Posted 08 May 2018
bioRxiv DOI: 10.1101/313734 (published DOI: 10.1002/humu.23630)
Posted 08 May 2018
Due to the high genetic heterogeneity of hearing loss, current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpretation is crucial to provide consistent and accurate diagnoses. The Hearing Loss Variant Curation Expert Panel was created within the Clinical Genome Resource to provide expert guidance for standardized genomic interpretation in the context of hearing loss. As one of its major tasks, our Expert Panel has adapted the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) standards and guidelines for the interpretation of sequence variants in hearing loss genes. Here, we provide a comprehensive illustration of the newly specified ACMG/AMP hearing loss rules. Three rules remained unchanged, four rules were removed, and the remaining twenty-one rules were specified. Of the specified rules, four had general recommendations, seven were gene/disease considerations, seven had strength-level specifications, and three rules had both gene/disease and strength-level specifications. These rules were further validated and refined using a pilot set of 51 variants assessed by curators. These hearing loss-specific ACMG/AMP rules will help standardize variant interpretation, ultimately leading to better care for individuals with hearing loss.
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