ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203214 SCV000257682 uncertain significance Familial hypercholesterolemia 2015-04-14 criteria provided, single submitter clinical testing
Invitae RCV000655149 SCV000777074 likely benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-03 criteria provided, single submitter clinical testing
Color RCV000776487 SCV000912067 likely benign Familial hypercholesterolemias 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.