ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.81C>T (p.Cys27=)

gnomAD frequency: 0.08613  dbSNP: rs2228671
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238104 SCV000294454 benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Preventiongenetics, part of Exact Sciences RCV000248705 SCV000304693 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238104 SCV000322875 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 3 Hmz + 28 Htz / 95 non-FH individuals; MAF = 13,4% in 86 Spanish healthy individuals
Illumina Laboratory Services, Illumina RCV000238104 SCV000410524 benign Hypercholesterolemia, familial, 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000248705 SCV000525633 benign not specified 2016-11-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000238104 SCV000689781 benign Hypercholesterolemia, familial, 1 2017-06-01 criteria provided, single submitter clinical testing
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000238104 SCV000987020 benign Hypercholesterolemia, familial, 1 2019-02-08 criteria provided, single submitter clinical testing Due to the increased occurrence of the mutation (>= 5%) and the current estimates of databases (LOVD 3), this variant is classified as benign.
Invitae RCV001520672 SCV001729836 benign Familial hypercholesterolemia 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000238104 SCV001737991 benign Hypercholesterolemia, familial, 1 2021-06-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429162 SCV002681389 benign Cardiovascular phenotype 2015-12-08 criteria provided, single submitter clinical testing This alteration is classified as 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238104 SCV000606007 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000238104 SCV000733810 benign Hypercholesterolemia, familial, 1 no assertion criteria provided clinical testing
Natera, Inc. RCV001273279 SCV001456135 benign Smith-Lemli-Opitz syndrome 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000248705 SCV001924967 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV001520672 SCV003836759 benign Familial hypercholesterolemia 2023-02-09 no assertion criteria provided clinical testing

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