Familial hypercholesterolemia-associated variants submitted to ClinVar: a ClinGen FH effort

Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism characterized by elevated levels of LDL-C and increased cardiovascular risk. A vast number of potentially pathogenic variants have been identified in FH patients in LDLR, APOB, and PCSK9 genes. We sought to enco...

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Bibliographic Details
Main Author: Rita Chora, Joana (author)
Other Authors: Iacocca, Michael A. (author), DiStefano, Marina T. (author), Carrie, Alain (author), Freiberger, Tomas (author), Leigh, Sarah E. (author), Kurtz, C. Lisa (author), Defesche, Joep (author), Sijbrands, Eric J. (author), Hegele, Robert A. (author), Knowles, Joshua W. (author), Bourbon, Mafalda (author), on behalf of the ClinGen FH Variant Curation Committee (author)
Format: conferenceObject
Language:eng
Published: 2019
Subjects:
Familial Hypercholesterolemia
Doenças Cardio e Cérebro-vasculares
Online Access:http://hdl.handle.net/10400.18/5929
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5929
Description
Summary:Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism characterized by elevated levels of LDL-C and increased cardiovascular risk. A vast number of potentially pathogenic variants have been identified in FH patients in LDLR, APOB, and PCSK9 genes. We sought to encourage FH researchers/clinicians worldwide to submit their variant findings to the centralized ClinVar database, with the ultimate goal of achieving accurate and consistent variant classification through data sharing and eventual development of FH-specific variant interpretation guidelines.

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