Making Sense of Missense: Benchmarking MutScore for Variant Interpretation in Inherited Cardiac Diseases.

Journal: Molecular diagnosis & therapy
Published Date: May 21, 2025

Abstract

BACKGROUND: Accurate interpretation of genetic variants still represents a major challenge. According to current recommendations from the American College of Medical Genetics and Genomics (ACMG), variant interpretation relies on a comprehensive analysis including, among others, computational data for prediction of variant pathogenicity. However, the predictive accuracy of in silico tools is often limited, and results are frequently inconsistent. In the current study, we evaluated the predictive performance of a previously described innovative classifier (MutScore) for missense variants in our cohort of probands with inherited cardiac diseases (InCDs).

Authors

  • Alessandra Pia Porretta
    CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat Claude-Bernard, Paris, France. Alessandra-pia.porretta@chuv.ch.
  • Véronique Fressart
    Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Elodie Surget
    CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat Claude-Bernard, Paris, France.
  • Charles Morgat
    CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat Claude-Bernard, Paris, France.
  • Adrien Bloch
    Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Anne Messali
    CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat Claude-Bernard, Paris, France.
  • Vincent Algalarrondo
    CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat Claude-Bernard, Paris, France.
  • Géraldine Vedrenne
    CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat Claude-Bernard, Paris, France.
  • Etienne Pruvot
    Service of Cardiology, Heart and Vessel Department, Centre Hospitalier Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011, Lausanne, Switzerland.
  • Antoine Leenhardt
    CNMR Maladies Cardiaques Héréditaires Rares, Hôpital Bichat, Paris, France.
  • Isabelle Denjoy
    CNMR Maladies Cardiaques Héréditaires Rares, Hôpital Bichat, Paris, France.
  • Fabrice Extramiana
    CNMR Maladies Cardiaques Héréditaires Rares, Hôpital Bichat, Paris, France.

Keywords

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