ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13102C>G (p.Gln4368Glu) (rs72654424)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000347702 SCV000426900 uncertain significance Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407736 SCV000426901 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547155 SCV000659265 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Color RCV000347702 SCV000687206 uncertain significance Familial hypercholesterolemia 2017-10-12 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant is a missense variant located in the alpha 3 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 nor has the variant been reported in individuals affected with FH in the literature. This variant has been identified in 20/10080 (0.20%) African American chromosomes by the Exome Aggregation Consortium (ExAC) general population database. Although this variant is fairly common in the African American population, available evidence is insufficient to rule out the pathogenicity of this variant conclusively.
Color RCV000771552 SCV000904114 likely benign Familial hypercholesterolemias 2018-05-09 criteria provided, single submitter clinical testing Likely Benign based on current evidence: This missense variant (also known as p.Gln4341Glu in the mature protein) is located in the alpha 3 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 a Norwegian individual with hypercholesterolemia (PMID: 18710658) but it has also been identified in 56/23972 African chromosomes (0.23%) in the general population by the Genome Aggregation Database (gnomAD). This variant allele frequency is greater than expected for the disorder based on prevalence, penetrance, and genetic heterogeneity. Based on available evidence, this variant is classified as Likely Benign.

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