2 documents found, page 1 of 1
LDLR variant classification by the ClinGen Familial Hypercholesterolemia Varian...
Chora, Joana Rita; Lacocca, Michael A.; Elnagheeb, Marwa; Kullo, Iftikhar J.; Bourbon, Mafalda; on behalf of the ClinGen FH VCEPFamilial hypercholesterolemia (FH) is the most common monogenic disorder of lipid metabolism associated with increased cardiovascular risk. FH is caused by pathogenic variants in three main FH genes, of which LDLR is the most frequent. Genetic testing can confirm the clinical diagnosis, but there are currently over 3700 different LDLR variants deposited in ClinVar. In 2022 the Clinical Genome Resource FH Varian...
Specification of ACMG AMP Guidelines for Variant Interpretation in Familial Hyp...
Chora, Joana R.; Lacocca, Michael A.; Carrié, Alain; Leigh, Sarah E.; Tichý, Lukáš; Kurtz, C. Lisa; Freiberger, Tomas; Sijbrands, Eric J.Background and Aims: the general ACMG/AMP guidelines for standardized variant interpretation in Mendelian disorders are a great asset in determining variants’ pathogenicity, but need to be adapted to each specific gene and disease.