ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2585T>C (p.Val862Ala) (rs145142090)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Integrative and Experimental Genomics,University of Luebeck RCV000172972 SCV000212150 likely benign Familial hypercholesterolemia 1 criteria provided, single submitter research
Invitae RCV000468217 SCV000541937 uncertain significance Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2016-04-16 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 862 of the APOB protein (p.Val862Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs145142090, ExAC <0.01%). This variant was reported in a family affected with premature myocardial infarction but it did not segregate with the disease (PMID: 26036859). ClinVar contains an entry for this variant (Variation ID: 189305). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Health, Inc RCV000775217 SCV000909461 uncertain significance Familial hypercholesterolemia 2018-12-03 criteria provided, single submitter clinical testing

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