ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13444A>G (p.Ile4482Val) (rs142702699)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771551 SCV000904113 uncertain significance Familial hypercholesterolemias 2018-10-03 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Ile4455Val in the mature protein) is a missense variant located in the Alpha3 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. This variant had been reported in an individual potentially affected with familial hypercholesterolemia (PMID 22095935). This variant is rare in the general population and has been identified in 37/125864 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
Illumina Clinical Services Laboratory,Illumina RCV000263137 SCV000426893 uncertain significance Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329926 SCV000426894 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing

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