Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating
Application of the ACMG/ClinGen scoring system led by itself to reclassification of 17% of VUS, despite a very low increase in diagnostic yield (1/141, 0.7%). Additionally, segregation/inheritance studies in CNVUS were mostly irrelevant in most NDD cases, challenging their routine broad application in clinical practice.
Authors
- Vanessa Sousa (ORCID: https://orcid.org/0000-0002-5855-1863)
- Nuno Maia (ORCID: https://orcid.org/0000-0003-3274-2474)
- Paula Jorge (ORCID: https://orcid.org/0000-0002-6507-222X)
- Jorge Diogo Da Silva (ORCID: https://orcid.org/0000-0001-7863-0406)
- Rita Soares (ORCID: https://orcid.org/0000-0003-3698-3697)
- Natáliya Tkachenko
Institutions
- Universidade do Porto (PT)
- Centro de Genética Clínica (PT)
- Hospital de Santo António (PT)
- Polytechnic Institute of Porto (PT)
- University of Minho (PT)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-02-16
- DOI
- https://doi.org/10.1136/jmg-2024-110144
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00