ClinVar Miner

Submissions for variant NM_001195798.2(LDLR):c.2397_2405del (p.Val800_Leu802del) (rs875989944)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211657 SCV000295992 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000211657 SCV000484810 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000211657 SCV000503485 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 8 , family member = 1 with co-segregation / systematically associated with c.1690A>C, p.Asn564His
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000211657 SCV000583949 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000211657 SCV000588664 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000211657 SCV000607704 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Iberoamerican FH Network RCV000211657 SCV000748064 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Robarts Research Institute,Western University RCV000211657 SCV000782941 likely pathogenic Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Invitae RCV000211657 SCV000820238 uncertain significance Familial hypercholesterolemia 1 2018-04-04 criteria provided, single submitter clinical testing This variant, c.2397_2405delCGTCTTCCT, results in the deletion of 3 amino acids of the LDLR protein (p.Val800_Leu802del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported on the same chromosome (in cis) with p.Asn564His in several individuals affected with hypercholesterolemia (PMID: 9147888, 9143924, 12442279, 10090484). This variant is also known as 2393del9 in the literature. ClinVar contains entries for this variant (Variation ID: 3737, 226394). Experimental studies have shown that this variant has a mild impact on LDLR protein function. However, when expressed with p.Asn564His in the same cDNA, LDLR receptor function was greatly reduced (PMID: 9143924). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211657 SCV000268667 pathogenic Familial hypercholesterolemia 1 2012-08-01 no assertion criteria provided clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000211657 SCV000606642 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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