ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9242G>C (p.Ser3081Thr) (rs72653100)

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
GeneDx RCV000522174 SCV000621874 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the APOB gene. The S3081T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 28/24,024 alleles (0.12%) from individuals of African ancestry in large population cohorts (Lek et al., 2016). The S3081T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function.
Color RCV000775478 SCV000909841 uncertain significance Familial hypercholesterolemia 2018-09-24 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant (also known as p.Ser3054Thr in the mature protein) is located in the beta 2 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 familial hypercholesterolemia in the literature. This variant is fairly common in the general population and has been identified in 28/24024 African chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
Invitae RCV000522174 SCV001012593 likely benign not provided 2018-05-08 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.