ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.253C>T (p.Gln85Ter)

dbSNP: rs875989893
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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 RCV000211675 SCV000294557 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 RCV000211675 SCV000503119 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 , family members = 4 with co-segregation
New York Genome Center RCV000211675 SCV002764563 pathogenic Hypercholesterolemia, familial, 1 2021-01-20 criteria provided, single submitter clinical testing The heterozygous c.253C>T(p.Gln85Ter) variant identified in exon 3/18 of the LDLR gene creates a premature translation termination codon and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The p.Gln85Ter variant has been reported in affected individuals in the literature (PMIDs:7489239, 20145306). The variant is reported in ClinVar as Pathogenic by three independent sources [VarID:226311]. The c.253C>T(p.Gln85Ter) variant is absent from the gnomAD database indicating it is an extremely rare allele in the populations represented in that database. Based on the available evidence, the c.253C>T(p.Gln85Ter)variant identified in the LDLR gene is reported as Pathogenic.
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211675 SCV000268546 pathogenic Hypercholesterolemia, familial, 1 2015-08-20 no assertion criteria provided clinical testing

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