ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1845+2T>C

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237150 SCV000295701 likely pathogenic Familial hypercholesterolemia 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 RCV000237150 SCV000503424 pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000237150 SCV000588613 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV000819649 SCV000960320 pathogenic Familial hypercholesterolemia 2018-12-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 12 of the LDLR gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs778408161, ExAC 0.001%). This variant has been observed in several individuals affected with hypercholesterolemia (PMID: 7583548, 26927322). ClinVar contains an entry for this variant (Variation ID: 252070). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237150 SCV000606538 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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