Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
U4M - |
RCV000495897 | SCV000583878 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Cardiovascular Research Group, |
RCV000495897 | SCV000599391 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV003372732 | SCV004087524 | uncertain significance | Cardiovascular phenotype | 2023-08-01 | criteria provided, single submitter | clinical testing | The p.L582F variant (also known as c.1744C>T), located in coding exon 12 of the LDLR gene, results from a C to T substitution at nucleotide position 1744. The leucine at codon 582 is replaced by phenylalanine, an amino acid with highly similar properties. This alteration has been reported as compound heterozygous with an additional alteration in LDLR in an individual with limited clinical details (Chiou KR et al. J Clin Lipidol Feb;10:490-6). Additionally, in vitro studies show this alteration may impact protein function (Jiang L et al. Sci Rep, 2016 Nov;6:36823). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |