ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)

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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 RCV000238589 SCV000295381 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238589 SCV000322944 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/208 non-FH alleles; 0/100 normolipidemic individuals
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000238589 SCV000503338 likely pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 / previously described in association with FH / Software predictions: Damaging
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000238589 SCV000588574 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Iberoamerican FH Network RCV000238589 SCV000748146 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV000238589 SCV001428730 likely pathogenic Hypercholesterolemia, familial, 1 2020-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003581622 SCV004298355 pathogenic Familial hypercholesterolemia 2022-12-21 criteria provided, single submitter clinical testing This variant is also known as I430T. For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LDLR protein function. ClinVar contains an entry for this variant (Variation ID: 251801). This missense change has been observed in individuals with autosomal dominant or recessive familial hypercholesterolemia and/or autosomal dominant or recessive hypercholesterolemia (PMID: 10980548, 11317361, 19319977, 21145767, 33740630). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 451 of the LDLR protein (p.Ile451Thr).
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238589 SCV000606403 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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