P731: An alignment initiative for prenatal interpretation of low-penetrance ClinGen recurrent copy number variants

Genetics in Medicine Open 2026 Open access

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Authors: Sibel Kantarci, Celeste Eno, Zhongxia (Joe) Qi, T. Niroshi Senaratne, Stuart Schwartz, Peter Bui
DOI: 10.1016/j.gimo.2026.104223
Cited by: 0

Abstract

Recurrent copy number variants (CNVs) curated by the Clinical Genome Resource (ClinGen) represent well-characterized genomic intervals with established associations to neurodevelopmental and other phenotypes. However, CNVs with low penetrance and variable expressivity present significant interpretive challenges in the prenatal setting, where the phenotypic implications may be uncertain. Inconsistent laboratory practices in the classification and reporting of such variants can further complicate prenatal counseling and clinical decision-making.

Fields of Study & Subjects

Prenatal Screening and Diagnostics Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104223–104223
Publication date
1 January 2026
Language
EN