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The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.

Clinical genetics - 1 Mar 2025

Medaglia Stefano, Reig-Palou Jaume, Bellés Ariadna, Moreno-Ruiz Nerea, Rodríguez Jairo, Armengol Xavier, Aróstegui Juan Ignacio, Armengol Lluís, Guillén Juan José, Laayouni Hafid, Casals Ferran

Abstract excerpt

Functional annotation and interpretation of genetic variants are a critical step in genetic diagnosis, as it may lead to personalized therapeutic options and genetic counseling. While the number of confirmed pathogenic genetic variants in an individual is relatively low, the number of variants of uncertain significance (VOUS) can be considerably higher, increasing the number of potential carriers of genetic...

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PMID: 39501598
DOI: 10.1111/cge.14642
PMCID: PMC11790509

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