ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2390-2A>G (rs767790696)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238115 SCV000295983 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV000238115 SCV000544639 pathogenic Familial hypercholesterolemia 1 2017-12-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 16 of the LDLR gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs767790696, ExAC 0.002%). This variant has been reported in several individuals affected with familial hypercholesterolemia and has been shown to segregate with the phenotype (PMID: 8141835, 10441197, 12052488, 20145306, 21382890, 10441197). This variant is also known as IVS16-2A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 252313). Experimental studies have demonstrated that this intronic change leads to a splicing defect (PMID: 8141835). For these reasons, this variant has been classified as Pathogenic.
Fundacion Hipercolesterolemia Familiar RCV000238115 SCV000607701 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Robarts Research Institute,Western University RCV000238115 SCV000782940 pathogenic Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia RCV000238115 SCV001432636 pathogenic Familial hypercholesterolemia 1 2019-06-05 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238115 SCV000606639 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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