ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) (rs875989907)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211615 SCV000294976 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 RCV000211615 SCV000503237 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 , family members = 2 with co-segregation / previously described in association with FH / Software predictions: Damaging
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000211615 SCV000540758 likely pathogenic Familial hypercholesterolemia 1 2016-11-05 criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000211615 SCV000583740 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000211615 SCV000607501 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine RCV000211615 SCV000839983 likely pathogenic Familial hypercholesterolemia 1 2017-09-19 criteria provided, single submitter clinical testing This c.796G>A (p.Asp266Asn) variant in the LDLR gene has been reported in multiple patients with familial hypercholesterolemia (PMID: 11810272, 23375686). Multiple different amino acid substitutions affecting aspartic acid at position 266 of the LDLR protein have also been reported in patients with familial hypercholesterolemia (PMID: 1301956, 12417285, 28235710). The c.796G>A variant is extremely rare in the general population and aspartic acid at position 266 of the LDLR protein is highly evolutionarily conserved. The c.796G>A (p.Asp266Asn) variant in the LDLR gene is classified as likely pathogenic.
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211615 SCV000268585 pathogenic Familial hypercholesterolemia 1 2013-02-26 no assertion criteria provided clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000211615 SCV000606225 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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