ClinVar Miner

Submissions for variant NM_000384.2(APOB):c.10520G>C (p.Arg3507Pro) (rs201156840)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776473 SCV000912023 likely benign Familial hypercholesterolemias 2017-12-12 criteria provided, single submitter clinical testing
Invitae RCV000230104 SCV000284753 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2016-03-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 3507 of the APOB protein (p.Arg3507Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs201156840, ExAC 0.04%). This variant has been reported in the literature individuals affected with hypercholesterolemia, but also in control individuals from the normal population (PMID: 15797858, 16250003). This variant is also known as R3480P in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. Data from a small experimental in-vitro study suggest that this missense change reduces the LDL receptor affinity and turnover (PMID: 15797858). However, the clinical significance of these findings is unknown. In summary, this variant is a rare missense with a suggested impact on protein function. In the absence of confirmed segregation evidence or solid functional data, at this time this change has been classified as a Variant of Uncertain Significance.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000508963 SCV000605968 benign not specified no assertion criteria provided research

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