ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro)

dbSNP: rs875989932
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211659 SCV000295672 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000211659 SCV000503416 likely pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 / previously described in association with FH/software prediction damaging
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000211659 SCV000583886 likely pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000211659 SCV000607643 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Ambry Genetics RCV004020585 SCV005035981 likely pathogenic Cardiovascular phenotype 2024-01-12 criteria provided, single submitter clinical testing The p.L605P variant (also known as c.1814T>C), located in coding exon 12 of the LDLR gene, results from a T to C substitution at nucleotide position 1814. The leucine at codon 605 is replaced by proline, an amino acid with similar properties. This alteration has been reported in subjects with familial hypercholesterolemia (FH) (Shin JA et al. Clin Genet, 2000 Mar;57:225-9; Alonso R et al. Clin Biochem, 2009 Jun;42:899-903; Hooper AJ et al. Atherosclerosis, 2012 Oct;224:430-4; Wintjens R et al. J Lipid Res, 2016 Mar;57:482-91). This variant is also considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211659 SCV000268640 pathogenic Hypercholesterolemia, familial, 1 2008-06-19 no assertion criteria provided clinical testing

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