Recommendations for LDLR variant interpretation by the ClinGen’s Familial Hypercholesterolemia Expert Panel

Familial Hypercholesterolemia (FH): - Lipid metabolism autosomal dominant condition; - Elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since childhood → increased risk of atherosclerotic cardiovascular disease; - High heterozygote prevalence (1/250-1/500); Homozygous rare (1/ 300 000- 1/ 1 000 000); - Caused by pathogenic variants in LDLR (>90%), APOB (5- 10%) and PCSK9 (1-3%) genes; -Marked increase in FH variants submitted to ClinVar; -45% of variants were classified with more than one method and 466 variants submitted with potential clinical significance had conflicting or no classifications.

Palavras-chave

Familial Hypercholesterolemia Recommendations LDLR Variant Doenças Cardio e Cérebro-vasculares

URI

http://hdl.handle.net/10400.18/7716

Editora

Instituto Nacional de Saúde Doutor Ricardo Jorge, IP

Coleções

DPSPDNT - Posters/abstracts em congressos internacionais

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