ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.751G>A (p.Ala251Thr)

gnomAD frequency: 0.00190  dbSNP: rs61741625
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001837918 SCV000554794 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001172132 SCV000720984 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000606455 SCV000857803 likely benign not specified 2017-11-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771162 SCV000903043 likely benign Familial hypercholesterolemia 2018-01-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001172132 SCV001335090 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393179 SCV002671944 likely benign Cardiovascular phenotype 2017-09-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001172132 SCV004218910 benign not provided 2023-07-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925332 SCV004753167 likely benign APOB-related condition 2023-06-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.