Overestimation of Pathogenic Variants in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Puntos clave

• Overestimation of pathogenicity was observed in almost half of the examined variants, leading to misleading conclusions regarding their significance.
• VarSome reclassified just under 50% of reported variants as pathogenic or likely pathogenic, while ClinVar confirmed less than 20%.
• Analysis of genetic variants was conducted to assess their pathogenic status according to established guidelines and databases.
• These findings underscore the importance of standardized interpretation methods to enhance accuracy in genetic diagnosis and treatment.