ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7223C>T (p.Ser2408Phe) (rs140027955)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462316 SCV000554795 likely benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000776523 SCV000912119 likely benign Familial hypercholesterolemia 2018-06-07 criteria provided, single submitter clinical testing Likely Benign based on current evidence: This variant (also known as p.Ser2381Phe in the mature protein) is a missense variant located in the alpha 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. This variant has been reported in two Chinese individuals with familial hypercholesterolemia (PMID: 27932355) but it has also been identified in 39/18800 East Asian chromosomes (0.21%) in the general population by the Genome Aggregation Database (gnomAD). This variant allele frequency is greater than expected for the disorder based on prevalence, penetrance, and genetic heterogeneity. Based on available evidence, this variant is classified as Likely Benign.

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