ClinVar Miner

Submissions for variant NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) (rs11591147)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203182 SCV000258263 benign Familial hypercholesterolemia 3 2015-06-11 criteria provided, single submitter clinical testing
Invitae RCV000203182 SCV000291595 benign Familial hypercholesterolemia 3 2019-12-31 criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256313 SCV000323030 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 3/100 normolipidemic controls; 0/100 normolipidemic individuals
Illumina Clinical Services Laboratory,Illumina RCV000203182 SCV000358213 likely benign Familial hypercholesterolemia 3 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Robarts Research Institute,Western University RCV000256313 SCV000484817 benign Familial hypercholesterolemia 1 2019-08-22 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000256313 SCV000588678 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000256313 SCV000607712 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV000256313 SCV000690958 benign Familial hypercholesterolemia 1 2017-04-17 criteria provided, single submitter clinical testing
GeneDx RCV000605465 SCV000730049 benign not specified 2017-05-08 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985896 SCV001134562 benign not provided 2018-10-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001099060 SCV001255475 benign Hypobetalipoproteinemia 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.
OMIM RCV000003012 SCV000023170 association Low density lipoprotein cholesterol level quantitative trait locus 1 2008-03-20 no assertion criteria provided literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000508774 SCV000606676 pathogenic Hypocholesterolemia no assertion criteria provided research

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