ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1844A>T (p.Glu615Val)

dbSNP: rs879255046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237251 SCV000295695 likely 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 RCV000237251 SCV000503421 likely 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 / Other mutation at same codon/software prediction damaging
Ambry Genetics RCV002411095 SCV002712659 pathogenic Cardiovascular phenotype 2020-11-13 criteria provided, single submitter clinical testing The p.E615V pathogenic mutation (also known as c.1844A>T), located in coding exon 12 of the LDLR gene, results from an A to T substitution at nucleotide position 1844. The glutamic acid at codon 615 is replaced by valine, an amino acid with dissimilar properties. This variant segregates with familial hypercholesterolemia and has been detected in multiple affected individuals (Marduel M et al. Hum Mutat, 2010 Nov;31:E1811-24). Another alteration at the same codon, p.E615K (c.1843G>A), has been detected in multiple individuals with familial hypercholesterolemia (Fouchier SW et al. Hum Genet, 2001 Dec;109:602-15; Huijgen R et al. Hum Mutat, 2010 Jun;31:752-60). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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