P652: Considerations of variant interpretation in galactosemia: Challenges of creating ACMG specifications for GALT
The ClinGen Galactosemia Variant Curation Expert Panel (VCEP) has developed variant classification criteria for the gene GALT and is currently piloting these rules. Throughout criteria creation, the VCEP encountered several challenges related to evidence codes, hypomorphic variants, and populations with underrepresented genomic information.
Authors
- Tatiana Yuzyuk (ORCID: https://orcid.org/0000-0001-5567-0704)
- Rong Mao (ORCID: https://orcid.org/0000-0002-1236-0252)
- Gerard T. Berry (ORCID: https://orcid.org/0000-0001-5299-3313)
- Christina Hung (ORCID: https://orcid.org/0000-0003-1323-700X)
- Brian J. Shayota (ORCID: https://orcid.org/0000-0003-4657-6454)
- Didem Demirbas (ORCID: https://orcid.org/0000-0003-2865-2708)
- Alexa Dickson (ORCID: https://orcid.org/0009-0008-4217-5729)
- Robert E. Lewis (ORCID: https://orcid.org/0000-0002-3616-2971)
- Judith L. Fridovich‐Keil (ORCID: https://orcid.org/0000-0001-7947-5807)
- Diane B. Zastrow (ORCID: https://orcid.org/0000-0002-8506-6812)
Institutions
- Boston Children's Hospital (US)
- Children’s Institute (US)
- Harvard University (US)
- Emory University (US)
- Washington University in St. Louis (US)
- University of Utah (US)
- Invitae (United States) (US)
- ARUP Laboratories (United States) (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103021
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00