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Specifications of ACMG AMP Variant Curation Guidel ...
Specifications of ACMG AMP Variant Curation Guidelines for the Analysis of FOXN1 Sequence Variants Recommendations by ClinGen’s Severe Combined Immunodeficiency Disease
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The document outlines FOXN1 Variant Curation Guidelines for the classification and interpretation of variants in the FOXN1 gene related to Severe Combined Immunodeficiency (SCID). It covers aspects like population frequency, variant impacts, comparison variants, segregation, case observations, and functional effects. The guidelines include factors like protein length changes, missense variants, population frequencies, and segregation evidence. The document also discusses the significance of phenotypic features in evaluating variants, such as congenital alopecia, nail dystrophy, T cell abnormalities, and more. Additionally, it highlights the importance of using functional assays and animal models in determining variant classifications. The goal is to provide accurate variant interpretations for submission to the ClinVar database. The document emphasizes specificity, efficiency, and consistency in variant classification to improve clinical decision-making and patient outcomes. It also mentions the formation of the ClinGen SCID VCEP, focusing on genes associated with the SCID phenotype and specifically on FOXN1 deficiency, which can lead to a range of diseases affecting T cell development. Overall, the guidelines aim to reduce variants of uncertain significance and enhance the classification accuracy of FOXN1 variants for better clinical management of patients with SCID.
Keywords
FOXN1 Variant Curation Guidelines
Severe Combined Immunodeficiency
SCID
Variant classification
Interpretation
Population frequency
Variant impacts
Functional effects
Phenotypic features
Functional assays
© 2024 American College of Medical Genetics and Genomics. All rights reserved.
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