The UCL Low-Density Lipoprotein Receptor Gene Variant Database: Pathogenicity Update

Familial hypercholesterolemia (FH) is a common genetic disorder frequently caused by low-density lipoprotein receptor (LDLR) gene variants.  Patients with FH have high levels of LDL-cholesterol leading to cardiovascular disease including premature heart attacks.  We report an update of the UCL LDLR variant database which is used widely by clinicians and researchers as a catalogue of published variant information and pathogenicity predictions. Over 1700 unique LDLR variants have been reported globally, of which we suggest that 76% are likely to be, or are probably pathogenic, 17% are unlikely to be, or are probably not pathogenic and the remaining 7% are variants of unknown significance, where additional family and in vitro studies will be required to confirm or refute their pathogenicity. (By Dr. Sarah Leigh, http://jmg.bmj.com/content/early/2016/11/07/jmedgenet-2016-104054 )