ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13680T>C (p.Thr4560=)

gnomAD frequency: 0.00064  dbSNP: rs72654427
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001837971 SCV000659269 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-31 criteria provided, single submitter clinical testing
Robarts Research Institute, Western University RCV000660667 SCV000782816 likely benign Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771134 SCV000902918 likely benign Familial hypercholesterolemia 2017-06-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001281699 SCV001133394 benign not specified 2019-08-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000560486 SCV001152098 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing APOB: BP4, BP7
Illumina Laboratory Services, Illumina RCV001136657 SCV001296513 uncertain significance Familial hypobetalipoproteinemia 1 2017-08-01 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001136658 SCV001296514 benign Hypercholesterolemia, autosomal dominant, type B 2017-08-01 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000560486 SCV001823976 likely benign not provided 2021-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384271 SCV002702218 likely benign Cardiovascular phenotype 2018-02-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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.