ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4178C>T (p.Ala1393Val) (rs143282164)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000203214 SCV000257682 uncertain significance Familial hypercholesterolemia 1 2015-04-14 criteria provided, single submitter clinical testing
Invitae RCV000655149 SCV000777074 likely benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2020-10-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV000776487 SCV000912067 likely benign Familial hypercholesterolemia 2018-06-06 criteria provided, single submitter clinical testing Likely Benign based on current evidence: This variant (also known as p.Ala1366Val in the mature protein) is a missense variant located in the beta 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 nor has the variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has been identified in 60/24034 (0.25%) African chromosomes 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311182 SCV001501254 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing

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