ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1744C>T (p.Leu582Phe)

dbSNP: rs1131692216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000495897 SCV000583878 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 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.

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