ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) (rs200261177)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202945 SCV000257681 uncertain significance Familial hypercholesterolemia 1 2015-05-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000202945 SCV000427094 uncertain significance Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365208 SCV000427095 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000771229 SCV000903328 uncertain significance Familial hypercholesterolemia 2018-07-09 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Ser1215Thr in the mature protein) is a missense variant located in the beta1 domain of the APOB protein. Computational prediction tools and conservation analyses suggest that this variant may not impact 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 familial hypercholesterolemia in the literature. This variant is present in the general population and has been identified in 72/277086 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997065 SCV001152154 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing

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