Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Integrated Genetics/Laboratory Corporation of America | RCV000030130 | SCV000052785 | likely pathogenic | Familial hypercholesterolemia 1 | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely pathogenic. |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000030130 | SCV000503445 | pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 |
Gene |
RCV000498572 | SCV000589576 | pathogenic | not provided | 2017-06-02 | criteria provided, single submitter | clinical testing | The Q660X variant in the LDLR gene has been reported previously as Q639X (due to alternate nomenclature) in one Flemish individual with FH (Varret et al., 1998). The Q660X variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the LDLR gene have been reported in the Human Gene Mutation Database in association with FH, and loss-of-function is an established mechanism of disease in the LDLR gene (Stenson et al., 2014). Furthermore, the Q660X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). |