ClinVar Miner

Submissions for variant NM_001195798.2(LDLR):c.1868_1870TCA[1] (p.Ile624del)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237415 SCV000295730 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 RCV000237415 SCV000503428 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 4, family members =7
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237415 SCV000583901 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000237415 SCV000588619 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000237415 SCV000607651 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001042592 SCV001206284 pathogenic Familial hypercholesterolemia 2019-12-18 criteria provided, single submitter clinical testing This variant, c.1871_1873del, results in the deletion of 1 amino acid(s) of the LDLR protein (p.Ile624del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in families and unrelated individuals affected with familial hypercholesterolemia (PMID: 27824480, 25378237, 25461735, 23375686, 11668640, 20145306, 28932795, 15199436). ClinVar contains an entry for this variant (Variation ID: 252097). This variant has been reported to affect LDLR protein function (PMID: 25378237). For these reasons, this variant has been classified as Pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237415 SCV000606548 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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