ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) (rs12714097)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582805 SCV000687222 uncertain significance Familial hypercholesterolemia 1 2017-09-14 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant is a missense variant located in the beta-alpha 1 domain of the APOB 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 individuals affected with hypercholesterolemia in UK (PMID 23680767) and Malaysia (PMID 22534770) but it has also been identified in 58/121088 chromosomes by the Exome Aggregation Consortium (ExAC) general population database.
Invitae RCV000845557 SCV000777095 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000582805 SCV000782831 likely benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000771198 SCV000903184 uncertain significance Familial hypercholesterolemia 2018-09-11 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant (also known as p.Pro850Leu in the mature protein) is located in the beta alpha 1 domain of the APOB 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 individuals with hypercholesterolemia in UK (PMID: 23680767) and Malaysia (PMID: 22534770). The variant has also been identified in 137/276924 chromosomes (117/126436 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845557 SCV000987686 uncertain significance not provided criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000845557 SCV001152167 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing

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