ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.507C>T (p.Asn169=)

gnomAD frequency: 0.00029  dbSNP: rs146354103
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030137 SCV000052792 likely benign Hypercholesterolemia, familial, 1 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Cardiovascular Biomarker Research Laboratory, Mayo Clinic RCV000030137 SCV000266317 uncertain significance Hypercholesterolemia, familial, 1 2016-08-31 criteria provided, single submitter research MAF =<0.3%, LDL-C >=160 mg/dL
LDLR-LOVD, British Heart Foundation RCV000030137 SCV000294752 benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454741 SCV000539507 likely benign not specified 2016-03-31 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: Silent, not in splice consensus; ExAC: 0.2% (11/6614) Finnish; ClinVar: 1 LB
Fundacion Hipercolesterolemia Familiar RCV000030137 SCV000607465 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
GeneDx RCV001711090 SCV000730504 likely benign not provided 2019-10-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17347910, 26332594, 20145306, 15241806)
Invitae RCV000775042 SCV000752450 benign Familial hypercholesterolemia 2024-01-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775042 SCV000909139 likely benign Familial hypercholesterolemia 2017-08-25 criteria provided, single submitter clinical testing
Mendelics RCV000030137 SCV001140981 benign Hypercholesterolemia, familial, 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000030137 SCV001282939 uncertain significance Hypercholesterolemia, familial, 1 2019-02-11 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002336095 SCV002642919 likely benign Cardiovascular phenotype 2019-03-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001711090 SCV004011016 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing LDLR: BP4, BP7
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000030137 SCV000606139 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research
Natera, Inc. RCV000775042 SCV002086368 likely benign Familial hypercholesterolemia 2020-02-20 no assertion criteria provided clinical testing

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