ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter)

dbSNP: rs767024374
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238137 SCV000295132 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 RCV000238137 SCV000503279 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 3 , family members = 2 with co-segregation / FH-Bretagne-2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000238137 SCV000583775 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000238137 SCV000607543 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000238137 SCV002549734 pathogenic Hypercholesterolemia, familial, 1 2021-11-23 criteria provided, single submitter clinical testing The LDLR p.Tyr336* (originally p.Tyr315*, FH Bretagne-2) nonsense variant is pathogenic for familial hypercholesterolaemia (FH). It has previously been identified in multiple cohorts of FH patients and is predicted to cause loss of normal protein function through protein truncation (with the loss of the C-terminal ~61% of the protein) and nonsense-mediated mRNA decay.

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