ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.41dup (p.Leu14fs)

dbSNP: rs879254388
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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 RCV000237928 SCV000294420 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 RCV000237928 SCV000503093 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237928 SCV000583624 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing ACMG Guidelines: Likely Pathogenic (ii)
Ambry Genetics RCV002327169 SCV002627292 pathogenic Cardiovascular phenotype 2019-01-28 criteria provided, single submitter clinical testing The c.41dupT pathogenic mutation, located in coding exon 1 of the LDLR gene, results from a duplication of T at nucleotide position 41, causing a translational frameshift with a predicted alternate stop codon (p.L14Ffs*38). This alteration (referred to as 41-42insT) has been reported in the homozygous state in a pediatric case with familial hypercholesterolemia demonstrating xanthoma, corneal arcus, and premature coronary heart disease (Sözen MM et al. Atherosclerosis. 2005 May;180:63-71). 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.

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