ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12343G>A (p.Val4115Ile)

dbSNP: rs765681925
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 RCV001838019 SCV000777015 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2017-11-25 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 4115 of the APOB protein (p.Val4115Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant has not been reported in the literature in individuals with APOB-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency).
Robarts Research Institute, Western University RCV000660665 SCV000782806 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing

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.