ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2479G>T (p.Val827Phe) (rs137853964)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000417325 SCV000503494 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1/previously described in association with FH/Software predictions: Conflicting
Broad Institute Rare Disease Group,Broad Institute RCV001248957 SCV001422751 uncertain significance Familial hypercholesterolemia 2020-01-22 no assertion criteria provided curation The p.Val827Phe variant in LDLR has been reported in 2 Moroccan individuals with familial hypercholesterolemia (PMID: 30415195), and was absent from large population studies. This variant has also been reported in ClinVar as likely pathogenic (Variation ID: 375840). 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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