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@article{1863070,
author = {Chora, J. R. and Iacocca, M. A. and Tichý, Lukas and Wand, H. and Kurtz, C. L. and Zimmermann, H. and Leon, A. and Williams, M. and Humphries, C. L. and Hooper, A. J. and Trinder, M. and Brunham, L. R. and Costa Pereira, A. and Jannes, C. E. and Chen, M. and Chonis, J. and Wang, J. and Kim, S. and Johnston, T. and Souček, Přemysl and Kramárek, Michal and Leigh., S. E and Carrié, A. and Sijbrands, E. J. and Hegele., R. A and Freiberger, Tomáš and Knowles, J. W. and Bourbon, M.},
article_location = {United States},
article_number = {2},
doi = {http://dx.doi.org/10.1016/j.gim.2021.09.012},
keywords = {ACMG/AMP; ClinGen; Familial hypercholesterolemia; LDLR; Variant classification},
language = {eng},
issn = {1098-3600},
journal = {Genetics In Medicine},
title = {The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification},
url = {https://www.sciencedirect.com/science/article/pii/S109836002104140X?via%3Dihub},
volume = {24},
year = {2022}
}
TY - JOUR
ID - 1863070
AU - Chora, J. R. - Iacocca, M. A. - Tichý, Lukas - Wand, H. - Kurtz, C. L. - Zimmermann, H. - Leon, A. - Williams, M. - Humphries, C. L. - Hooper, A. J. - Trinder, M. - Brunham, L. R. - Costa Pereira, A. - Jannes, C. E. - Chen, M. - Chonis, J. - Wang, J. - Kim, S. - Johnston, T. - Souček, Přemysl - Kramárek, Michal - Leigh., S. E - Carrié, A. - Sijbrands, E. J. - Hegele., R. A - Freiberger, Tomáš - Knowles, J. W. - Bourbon, M.
PY - 2022
TI - The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
JF - Genetics In Medicine
VL - 24
IS - 2
SP - 293-306
EP - 293-306
PB - Lippincott, Williams & Wilkins
SN - 10983600
KW - ACMG/AMP
KW - ClinGen
KW - Familial hypercholesterolemia
KW - LDLR
KW - Variant classification
UR - https://www.sciencedirect.com/science/article/pii/S109836002104140X?via%3Dihub
N2 - Purpose: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for sequence-level variant classification in Mendelian disorders. To increase accuracy and consistency, the Clinical Genome Resource Familial Hypercholesterolemia (FH) Variant Curation Expert Panel was tasked with optimizing the existing ACMG/AMP framework for disease-specific classification in FH. In this study, we provide consensus recommendations for the most common FH-associated gene, LDLR, where >2300 unique FH-associated variants have been identified. Methods: The multidisciplinary FH Variant Curation Expert Panel met in person and through frequent emails and conference calls to develop LDLR-specific modifications of ACMG/AMP guidelines. Through iteration, pilot testing, debate, and commentary, consensus among experts was reached. Results: The consensus LDLR variant modifications to existing ACMG/AMP guidelines include (1) alteration of population frequency thresholds, (2) delineation of loss-of-function variant types, (3) functional study criteria specifications, (4) cosegregation criteria specifications, and (5) specific use and thresholds for in silico prediction tools, among others. Conclusion: Establishment of these guidelines as the new standard in the clinical laboratory setting will result in a more evidence-based, harmonized method for LDLR variant classification worldwide, thereby improving the care of patients with FH. (C) 2021 American College of Medical Genetics and Genomics.
ER -
CHORA, J. R., M. A. IACOCCA, Lukas TICHÝ, H. WAND, C. L. KURTZ, H. ZIMMERMANN, A. LEON, M. WILLIAMS, C. L. HUMPHRIES, A. J. HOOPER, M. TRINDER, L. R. BRUNHAM, A. COSTA PEREIRA, C. E. JANNES, M. CHEN, J. CHONIS, J. WANG, S. KIM, T. JOHNSTON, Přemysl SOUČEK, Michal KRAMÁREK, S. E LEIGH., A. CARRIÉ, E. J. SIJBRANDS, R. A HEGELE., Tomáš FREIBERGER, J. W. KNOWLES and M. BOURBON. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. \textit{Genetics In Medicine}. United States: Lippincott, Williams \&{} Wilkins, 2022, vol.~24, No~2, p.~293-306. ISSN~1098-3600. Available from: https://dx.doi.org/10.1016/j.gim.2021.09.012.
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