The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.

ABSTRACT:

Background

Familial hypercholesterolaemia (OMIM 143890) is most frequently caused by variations in the low-density lipoprotein receptor (LDLR) gene. Predicting whether novel variants are pathogenic may not be straightforward, especially for missense and synonymous variants. In 2013, the Association of Clinical Genetic Scientists published guidelines for the classification of variants, with categories 1 and 2 representing clearly not or unlikely pathogenic, respectively, 3 representing variants of unknown significance (VUS), and 4 and 5 representing likely to be or clearly pathogenic, respectively. Here, we update the University College London (UCL) LDLR variant database according to these guidelines.

Methods

PubMed searches and alerts were used to identify nove

SUBMITTER: Leigh S 

PROVIDER: S-EPMC5502305 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature