Measuring historical variant reclassification in inherited retinal disease and its impact on clinical genetic testing
Discordance in the pediatric cohort may have been impacted by subjective application of the ACMG/AMP guidelines and heterogeneity in IRD. Subjectivity in the guidelines, laboratory differences, and lack of interpretation review may have contributed to discordance in ClinVar. Work to improve interpretation for IRD should include better understanding of the genetic influences of IRD and optimization of the ACMG/AMP guidelines for this field.
Authors
- Sharon Aufox (ORCID: https://orcid.org/0000-0003-4424-8588)
- Jennifer L. Rossen (ORCID: https://orcid.org/0000-0002-9742-8868)
- Alexander Ing (ORCID: https://orcid.org/0000-0001-5233-2937)
- Valerie Allegretti
- Andy Drackley (ORCID: https://orcid.org/0000-0003-1822-1728)
- ALLAN S. GORDON (ORCID: https://orcid.org/0000-0002-2058-7289)
- Karly Kern
Institutions
- Northwestern University (US)
- Lurie Children's Hospital (US)
- Lurie Children's Hospital (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-10-07
- DOI
- https://doi.org/10.1080/13816810.2025.2568002
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00