ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1706-2A>T (rs878854027)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231584 SCV000285017 pathogenic Familial hypercholesterolemia 1 2016-04-05 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 11. It has been shown to disrupt mRNA splicing and likely results in an absent or disrupted protein product (PMID: 22129472). Truncating variants in LDLR are known to be pathogenic. This particular truncation has been reported in the literature (PMID: 20809525, 22129472). For these reasons, this variant has been classified as Pathogenic.
LDLR-LOVD, British Heart Foundation RCV000231584 SCV000295601 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 RCV000231584 SCV000503395 pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000231584 SCV000599383 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000231584 SCV000606495 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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