ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.233G>A (p.Arg78His) (rs146675823)

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Total submissions: 3
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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 RCV000238230 SCV000503114 likely benign Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 / patient compound heterozygous (LDLC max 400mg/dL) / Software predictions: Damaging
Color RCV000776465 SCV000912014 uncertain significance Familial hypercholesterolemias 2018-05-14 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Arg57His in the mature protein) is a missense variant located in the second LDLR type A repeat of the ligand binding domain of the LDLR protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in two individuals affected with hypercholesterolemia (PMID 20809525; Benyahya et al., 2010). This variant has also been identified in 12/246268 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
LDLR-LOVD, British Heart Foundation RCV000238230 SCV000294543 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only

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