The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in

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Tác giả: Eric Allenspach, Alice Y Chan, Ivan K Chinn, Morton J Cowan, Marwa A Elnagheeb, Rajarshi Ghosh, Mike Hershfield, Vanessa C Jacovas, Britt A Johnson, Namrata Khurana, Shiloh Martin, Benjamin McLean, Shannon McNulty, Alejandro Nieto, Luigi D Notarangelo, Xueyang Pan, Megan Piazza, Jennifer M Puck, Justyne E Ross, Nicolai S C van Oers, James Verbsky, Jolan Walter, Bo Yuan, Michelle Zelnick

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : medRxiv : the preprint server for health sciences , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 673973

PURPOSE: This collaborative study, led by the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (ClinGen SCID-VCEP), implemented and adapted the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for interpreting germline variants in genes with established relationships to SCID. The effort focused on the 7 most common SCID-related genes identified by SCID newborn screening in North America: METHODS: The SCID-VCEP conducted a rigorous review of variants that involved database analyses, literature review, and expert feedback to derive gene-specific modifications to the ACMG/AMP guidelines. These specifications were validated using a pilot set of 90 variants. CONCLUSION: The SCID-specific variant curation guidelines developed by the SCID-VCEP will enhance the precision of SCID genetic diagnosis and provide a robust framework for interpreting variants in SCID-related genes, contributing to appropriate treatment of SCID.
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