ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.191-2A>G (rs544203837)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211652 SCV000294510 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000211652 SCV000484774 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000211652 SCV000607429 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV000799814 SCV000939495 pathogenic Familial hypercholesterolemia 2018-07-18 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the LDLR gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with familial hypercholesterolemia (PMID: 27765764, 10735632, 9259195, 22390909, 21475731). This variant is also known as In 2 A-2G and IVS2-2A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 226306). Experimental studies have shown that this change results in aberrant splicing (PMID: 19208450). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211652 SCV000268540 pathogenic Familial hypercholesterolemia 1 2012-03-22 no assertion criteria provided clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000211652 SCV000606040 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000211652 SCV000733813 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided clinical testing

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