LDLR, APOB and PCSK9 variants associated with Familial hypercholesterolaemia application of ACMG guidelines for variant interpretation

Chora, J.R.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.

http://hdl.handle.net/10400.18/4810

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Abstract(s)

Familial hypercholesterolaemia (FH) is an autosomal dominant disorder of lipid metabolism presenting with increased cardiovascular risk. It is caused by functional mutations in LDLR (>90%), APOB (5-10%) and PCSK9 (1-3%). Although more than 1700 variants have been associated with FH, the great majority have not been proved functionally to affect the LDL receptor cycle. The American College of Medical Genetics and Genomics (ACMG) recently published a guideline for variant interpretation in clinical settings. We aimed to classify, following ACMG guidelines, all published variants associated with FH in different databases and individual reports to establish the proportion of variants that lack evidence to support their pathogenicity. A worldwide overview of FH variants has also been performed.