ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter)

dbSNP: rs113669610
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237222 SCV000295222 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 RCV000237222 SCV000503299 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
Ambry Genetics RCV002429174 SCV002740270 pathogenic Cardiovascular phenotype 2022-06-10 criteria provided, single submitter clinical testing The p.C368* pathogenic mutation (also known as c.1104C>A), located in coding exon 8 of the LDLR gene, results from a C to A substitution at nucleotide position 1104. This changes the amino acid from a cysteine to a stop codon within coding exon 8. This variant (also referred to as C347X) has been detected in familial hypercholesterolemia cohorts (Jensen HK et al. Atherosclerosis, 1999 Oct;146:337-44; Leren TP et al. Semin Vasc Med, 2004 Feb;4:75-85; Guardamagna O et al. J Pediatr, 2009 Aug;155:199-204.e2). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 RCV000237222 SCV000606331 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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