ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) (rs730882080)

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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 RCV000211613 SCV000294648 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 RCV000211613 SCV000503145 uncertain significance Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 , family member = 1 with co-segregation / FH-Naple-3 / Software predictions: Conflicting
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000454392 SCV000539518 uncertain significance not specified 2016-10-20 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 3 reports in HGMD, 2 from the same author. Very few probands and no apparent segregation data. Legacy nomenclature D97Y
Color RCV001186038 SCV001352368 likely pathogenic Familial hypercholesterolemia 2019-07-27 criteria provided, single submitter clinical testing
Invitae RCV001186038 SCV001411750 uncertain significance Familial hypercholesterolemia 2019-01-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 118 of the LDLR protein (p.Asp118Tyr). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is present in population databases (rs730882080, ExAC 0.003%). This variant has been observed in several individuals affected with heterozygous or homozygous familial hypercholesterolemia or myocardial infarction (PMID: 9974426, 23375686, 28965616, 11317362, 25487149). This variant is also known as D97Y, FH-Napoli-3 or Naples-3 in the literature. ClinVar contains an entry for this variant (Variation ID: 183085). This variant has been reported to have conflicting or insufficient data to determine the effect on LDLR protein function (PMID: 25647241). 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.
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia RCV000211613 SCV001432648 likely pathogenic Familial hypercholesterolemia 1 2019-05-10 criteria provided, single submitter research
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000161954 SCV000189529 not provided not provided no assertion provided in vitro
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211613 SCV000268559 pathogenic Familial hypercholesterolemia 1 2015-09-03 no assertion criteria provided clinical testing

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