Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

ABSTRACT:

Purpose

The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Using the hearing loss-specific American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines, the Hearing Loss VCEP (HL VCEP) illustrates the utility of expert specifications in variant interpretation.

Methods

A total of 157 variants across nine HL genes, previously submitted to ClinVar, were curated by the HL VCEP. The curation process involved collecting published and unpublished data for each variant by biocurators, followed by bimonthly meetings of an expert curation subgroup that reviewed all evidence and applied the HL-specific ACMG/AMP guidelines to reach a final classification.

Results

Bef

SUBMITTER: Patel MJ 

PROVIDER: S-EPMC8556313 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature