ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) (rs146651743)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Integrative and Experimental Genomics,University of Luebeck RCV000172961 SCV000212136 likely benign Familial hypercholesterolemia 1 criteria provided, single submitter research
LDLR-LOVD, British Heart Foundation RCV000172961 SCV000295004 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000172961 SCV000540763 pathogenic Familial hypercholesterolemia 1 2016-11-05 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000172961 SCV000607507 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Mendelics RCV000172961 SCV001140982 benign Familial hypercholesterolemia 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001384763 SCV001584408 pathogenic Familial hypercholesterolemia 2020-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys276*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal dominant familial hypercholesterolemia (PMID: 10790219). ClinVar contains an entry for this variant (Variation ID: 189298). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). For these reasons, this variant has been classified as Pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000172961 SCV000606240 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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