ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13477_13479CAG[1] (p.Gln4494del) (rs562574661)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256307 SCV000322867 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/192 non-FH alleles
Robarts Research Institute,Western University RCV000256307 SCV000484835 uncertain significance Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000256307 SCV000588469 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV000543542 SCV000659268 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Color RCV000256307 SCV000687210 uncertain significance Familial hypercholesterolemia 1 2017-07-26 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Gln4467del in the mature protein) is an in-frame deletion of a single amino acid located in the alpha 3 domain of the APOB protein. Functional assays have demonstrated that the variant protein causes a partial defect in binding and uptake of LDL (PMID 24234650, 26643808). Computational splicing tools suggest that this variant may not impact the RNA splicing. This variant has been reported in an individual with hypercholesterolaemia in UK but did not show conclusive co-segregation with hypercholesterolaemia in the family (PMID 24234650). This variant has been identified in 104/276342 chromosomes (91/125912 European chromosomes) in the general population by the Genome Aggregation Database (gnomAD). In summary, although this variant has been demonstrated to cause partial functional defect in experimental studies, clinical evidence is insufficient to determine the pathogenicity of this variant conclusively.
Color RCV000771550 SCV000904112 uncertain significance Familial hypercholesterolemia 2018-05-15 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Gln4467del in the mature protein) is an in-frame deletion of a single amino acid located in the alpha 3 domain of the APOB protein. Functional assays have demonstrated that the variant protein causes a partial defect in binding and uptake of LDL (PMID: 24234650, 26643808). Computational splicing tools suggest that this variant may not impact the RNA splicing. This variant has been reported in an individual with hypercholesterolemia but did not show conclusive co-segregation with hypercholesterolemia in the family (PMID: 24234650). This variant has been identified in 104/276342 chromosomes (91/125912 European chromosomes) in the general population by the Genome Aggregation Database (gnomAD). Although this variant has been demonstrated to cause partial functional defect in experimental studies, clinical evidence is insufficient to determine the pathogenicity of this variant conclusively.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845480 SCV000987575 likely pathogenic Familial hypercholesterolemia 2 criteria provided, single submitter clinical testing

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