Curating the Clinical Genome 2024 ePoster Gallery-ClinGen Curation of ClinVar Addressing Gene-Disease Evidence and Variant Pathogenicity Discordance

ClinGen Curation of ClinVar Addressing Gene-Disease Evidence and Variant Pathogenicity Discordance

Pdf Summary

ClinGen is an NIH-funded resource aiming to enhance patient care and precision medicine by providing public information on clinical gene and variant classifications. Collaborating with ClinVar, a database holding variant classifications, ClinGen utilizes Gene Curation Expert Panels (GCEPs) for gene-disease curation and Variant Curation Expert Panels (VCEPs) for assessing variant pathogenicity. The project involves 2,607 gene-disease curations and 6,791 curated variants. Variants classified by VCEPs are submitted to ClinVar for a three-star rating to assist in clinical decision-making. The study addresses gene-disease evidence and variant pathogenicity discrepancies in an effort to harmonize classifications. The project is supported by grants and referenced material for further reading. The workflow includes expert panels, classification assessments, and public dissemination of information to improve global genomic knowledge sharing. Flagged submissions are identified in ClinVar to prompt updates within a specific timeframe. Through these efforts, ClinGen aims to contribute to a comprehensive and accurate genomic resource for the benefit of patient care.

Keywords

ClinGen

NIH-funded

precision medicine

ClinVar

expert panels

gene-disease curation

variant pathogenicity

global genomic knowledge sharing

workflow

genomic resource

Anabella Popiel (apopiel@broadinstitute.org)