ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) (rs879254707)

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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 RCV000238119 SCV000295029 likely pathogenic Familial hypercholesterolemia 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 RCV000238119 SCV000503249 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 / Software predictions: Conflicting
Iberoamerican FH Network RCV000238119 SCV000748043 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238119 SCV000606258 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research
Broad Institute Rare Disease Group, Broad Institute RCV001249084 SCV001423044 uncertain significance Familial hypercholesterolemia 2020-01-22 no assertion criteria provided curation The p.Cys296Tyr variant in LDLR has been reported in 3 individuals with familial hypercholesterolemia (PMID: 23375686, 21722902, 20809525), and was absent from large population studies. This variant has also been reported in ClinVar as likely pathogenic (Variation ID: rs879254707). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3, PS4_supporting (Richards 2015).

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