ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly) (rs149660265)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497094 SCV000588429 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV000775542 SCV000909906 uncertain significance Familial hypercholesterolemia 2018-06-18 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Arg1137Gly in the mature protein) is a missense variant located in the beta 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 nor has this variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has been identified in 14/277174 chromosomes (13/126666 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.

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