NIH Reporter #5U24EY037387-02

Expert curation of clinically significant variants in genes for early onset retinal degeneration

This NIH-funded project focuses on curating clinically relevant genetic variants in genes associated with early onset retinal degeneration diseases such as LCA and eoRD. It aims to develop gene-specific classification rules and sustain variant curation activities to produce FDA-designated expert variant classifications in ClinVar, enhancing diagnosis and patient care.

Description

The project aims to define the clinical relevance of genetic variants associated with Leber congenital amaurosis (LCA) and early onset retinal degeneration (eoRD) by continuing the work of a variant curation expert panel to develop disease-gene specified rules for curation and systematically classify variants, implementing specified rules and ClinGen-approved protocols. The results will generate an FDA expert level approved resource of accurately classified variants in LCA/eoRD genes to improve the consistency and accuracy of interpreting diagnostic genetic test results, leading to more precise diagnosis and improved medical care.

View original record