ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2398C>A (p.Leu800Met) (rs183950016)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775565 SCV000909929 uncertain significance Familial hypercholesterolemias 2018-09-18 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Leu773Met in the mature protein) is a missense variant located in the beta alpha 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. This variant has been reported in two heterozygous Korean individuals with low LDL-C levels (<1 percentile) (PMID 29036232). This variant is fairly common in the general East Asian population and has been identified in 12/8648 East Asian chromosomes by the Genome Aggregation Database (gnomAD). While there is no indication that this variant causes disease, available evidence is insufficient to rule out the pathogenicity of this variant conclusively.

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