ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.518del (p.Cys173fs)

dbSNP: rs879254559
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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 RCV000238134 SCV000294764 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000238134 SCV000503173 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 4 , family member = 1 with co-segregation
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000238134 SCV000583689 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000238134 SCV000607468 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Ambry Genetics RCV002338787 SCV002644165 pathogenic Cardiovascular phenotype 2018-02-23 criteria provided, single submitter clinical testing The c.518delG pathogenic mutation, located in coding exon 4 of the LDLR gene, results from a deletion of one nucleotide at nucleotide position 518, causing a translational frameshift with a predicted alternate stop codon (p.C173Sfs*33). This alteration has been reported in individuals with hypercholesterolemia (Cenarro A et al. Clin. Genet., 1996 Apr;49:180-5; Huijgen R et al. Eur. Heart J., 2012 Sep;33:2325-30). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238134 SCV000606144 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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