ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.403A>G (p.Ile135Val) (rs769296548)

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
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256242 SCV000322825 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV000256242 SCV000687239 uncertain significance Familial hypercholesterolemia 1 2017-08-31 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant is a missense variant located in the beta alpha 1 domain of the APOB protein. Computational prediction tools and conservation analyses suggest that this variant may not impact 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 FH in the literature. This variant has been identified in 4/121360 chromosomes by the Exome Aggregation Consortium (ExAC) general population database.
Color RCV000776489 SCV000912069 likely benign Familial hypercholesterolemia 2018-07-06 criteria provided, single submitter clinical testing Likely Benign based on current evidence: This missense variant (also known as p.Ile108Val in the mature protein) is located in the beta alpha 1 domain of the APOB protein. Computational prediction tools suggest that this variant may not impact the protein function. This variant occurs in more than 15 mammalian species, suggesting that this variant is functionally tolerated. 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 11/277218 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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.