ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11052A>T (p.Leu3684Phe) (rs1229930000)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771687 SCV000904318 uncertain significance Familial hypercholesterolemias 2018-06-04 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Leu3657Phe in the mature protein) is a missense variant located in the beta 2 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. The variant has been reported in one chinese individual diagnosed with familial hypercholesterolemia in the literature (PMID 28235710). This variant is rare in the general population and has been identified in 1/245940 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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