ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) (rs769383881)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211560 SCV000294637 pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000211560 SCV000484731 likely pathogenic Familial hypercholesterolemia 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 RCV000211560 SCV000503142 pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 11 , family members = 8 with co-segregation
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000211560 SCV000583663 pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000211560 SCV000588497 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
GeneDx RCV000523979 SCV000617502 pathogenic not provided 2017-08-08 criteria provided, single submitter clinical testing The E113X variant in the LDLR gene has been in multiple unrelated patients with FH (Hobbs et al., 1992; Wang et al., 2016; Bañares et al., 2017). This variant was also identified in a homozygous individual who was diagnosed with FH at nine months of age (Sanna et al., 2016). This E113X variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the LDLR gene have been reported in Human Gene Mutation Database in association with FH (Stenson et al., 2014). Furthermore, the E113X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Iberoamerican FH Network RCV000211560 SCV000748084 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Invitae RCV000211560 SCV000833264 pathogenic Familial hypercholesterolemia 2018-02-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu113*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with familial hypercholesterolemia (PMID: 11196104, 11462246, 10532689, 11933210). This variant is also known as Stop 92, E92X in the literature. ClinVar contains an entry for this variant (Variation ID: 226320). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211560 SCV000268558 pathogenic Familial hypercholesterolemia 2013-05-28 no assertion criteria provided clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000211560 SCV000606090 pathogenic Familial hypercholesterolemia no assertion criteria provided research

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