ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.141C>T (p.Ser47=)

gnomAD frequency: 0.00815  dbSNP: rs28385701
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242915 SCV000316567 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256239 SCV000323031 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV000355523 SCV000358215 benign Hypobetalipoproteinemia 2018-01-13 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.
Illumina Laboratory Services, Illumina RCV000477591 SCV000358216 likely benign Hypercholesterolemia, autosomal dominant, 3 2018-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000477591 SCV000555876 benign Hypercholesterolemia, autosomal dominant, 3 2024-01-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000256239 SCV000690960 benign Hypercholesterolemia, familial, 1 2017-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000242915 SCV000731150 benign not specified 2017-05-31 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.
Iberoamerican FH Network RCV000256239 SCV000748117 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Robarts Research Institute, Western University RCV000256239 SCV000782977 benign Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759908 SCV000889599 benign not provided 2022-06-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000759908 SCV002496890 benign not provided 2024-11-01 criteria provided, single submitter clinical testing PCSK9: BP4, BP7, BS1, BS2
Ambry Genetics RCV002392776 SCV002697320 likely benign Cardiovascular phenotype 2015-12-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000759908 SCV004564682 benign not provided 2023-11-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000477591 SCV004843977 benign Hypercholesterolemia, autosomal dominant, 3 2024-09-27 criteria provided, single submitter clinical testing
GENinCode PLC RCV004586652 SCV005077865 benign Familial hypercholesterolemia 2022-07-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000477591 SCV000734033 benign Hypercholesterolemia, autosomal dominant, 3 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000242915 SCV001919752 benign not specified no assertion criteria provided clinical testing

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