ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.91G>A (p.Glu31Lys) (rs776421777)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775021 SCV000909118 uncertain significance Familial hypercholesterolemias 2018-05-29 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant is a missense variant located in the first 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 a Polish individual affected with hypercholesterolemia (PMID: 20145306). This variant has also been identified in 7/126712 non-Finnish European 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 RCV000237765 SCV000294459 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237765 SCV000606012 pathogenic Familial hypercholesterolemia no assertion criteria provided research

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