ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.939C>A (p.Cys313Ter) (rs13306512)

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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 RCV000237235 SCV000295073 pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237235 SCV000322920 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000237235 SCV000540772 pathogenic Familial hypercholesterolemia 2016-11-05 criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237235 SCV000583764 pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing
Color RCV000775228 SCV000909479 pathogenic Familial hypercholesterolemias 2018-03-23 criteria provided, single submitter clinical testing Pathogenic variant based on current evidence: This variant (also known as C292X and FH-Cyprus) changes one nucleotide in exon 6 of the LDLR gene. This creates a premature translational stop signal and is expected to result in an absent or non-functional protein product. Truncating variants in LDLR are known to be pathogenic (PMID: 20809525). While this variant is rare in the general population (0/277264 chromosomes in the Genome Aggregation Database (gnomAD)), it has been reported in multiple individuals affected with familial hypercholesterolemia (PMID: 1301956, 17142622, 21310417, 22698793). Based on available evidence, this variant is classified as Pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237235 SCV000606275 pathogenic Familial hypercholesterolemia no assertion criteria provided research

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