ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.325T>C (p.Cys109Arg) (rs140807148)

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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 RCV000237408 SCV000294630 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237408 SCV000322893 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles; 0/77 healthy control individuals
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000237408 SCV000540726 likely pathogenic Familial hypercholesterolemia 1 2016-11-05 criteria provided, single submitter clinical testing Disrupt disulfide bridge between Cys109 and Cys121.
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237408 SCV000583661 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000237408 SCV000987037 pathogenic Familial hypercholesterolemia 1 2018-05-11 criteria provided, single submitter clinical testing The mutation occurs at protein level at position 109 (position 88 of the mature protein) to exchange the amino acid cysteine for arginine. This change has already been described in the literature as FH Munster-1 allele, detected in patients with familial hypercholesterolemia, and associated with elevated cholesterol and LDL-C levels. It leads to a strong reduction of LDL receptor activity. PMID: 11313767, 1301956
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237408 SCV000606086 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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