ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1516G>A (p.Val506Met) (rs373848925)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775071 SCV000909172 uncertain significance Familial hypercholesterolemias 2018-10-02 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant (also known as p.Val485Met in the mature protein) is located in the third LDLR type B repeat of the EGF precursor homology domain of the LDLR protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact 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 familial hypercholesterolemia, who also carried a large duplication variant encompassing LDLR exons 3-12 (PMID: 20145306). This variant has also been identified in 17/246252 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 RCV000237901 SCV000295479 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237901 SCV000606447 pathogenic Familial hypercholesterolemia no assertion criteria provided research

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