ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10171del (p.Arg3391fs)

dbSNP: rs1663151257
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001875772 SCV002230770 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-06-02 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with APOB-related conditions. ClinVar contains an entry for this variant (Variation ID: 917844). This sequence change creates a premature translational stop signal (p.Arg3391Glyfs*3) in the APOB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APOB are known to be pathogenic (PMID: 20032471).
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation RCV001175120 SCV001313546 likely pathogenic Familial hypobetalipoproteinemia 1 2020-05-27 no assertion criteria provided clinical testing Proband referred for clinical genetic testing presented very low plasma lipid levels including triglycerides and cholesterol and with elevated hepatic enzyme levels. Clinical genetic testing identified heterozygosity for the p.Arg3391GlyfsTer3 (NM_000384.3:c.10171delA) genetic variant in the germline. Phenotype segregated with genotype in family members.

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.