ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV002051681 SCV000190310 uncertain significance Hypercholesterolemia 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Cardiovascular Biomarker Research Laboratory, Mayo Clinic RCV000210230 SCV000266314 likely benign Hypercholesterolemia, familial, 1 2015-08-31 criteria provided, single submitter research MAF =<0.3%
LDLR-LOVD, British Heart Foundation RCV000210230 SCV000295691 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000210230 SCV000588610 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV000771315 SCV000903571 likely benign Familial hypercholesterolemia 2018-03-14 criteria provided, single submitter clinical testing
Invitae RCV000771315 SCV000945773 uncertain significance Familial hypercholesterolemia 2022-10-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 613 of the LDLR protein (p.Val613Ile). This variant is present in population databases (rs148181903, gnomAD 0.007%). This missense change has been observed in individuals with hypercholesterolemia (PMID: 16250003, 19837725). ClinVar contains an entry for this variant (Variation ID: 161288). 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 not expected to disrupt LDLR protein function. 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.
Genome-Nilou Lab RCV000210230 SCV001653367 uncertain significance Hypercholesterolemia, familial, 1 2021-05-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000210230 SCV003816523 uncertain significance Hypercholesterolemia, familial, 1 2022-05-18 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000210230 SCV000606532 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research
Natera, Inc. RCV000771315 SCV002086854 uncertain significance Familial hypercholesterolemia 2020-02-06 no assertion criteria provided clinical testing

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