ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2864C>T (p.Pro955Leu)

gnomAD frequency: 0.00001  dbSNP: rs763052786
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001875825 SCV002309238 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-08-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261297 SCV002541791 uncertain significance not provided 2021-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436736 SCV002745884 uncertain significance Cardiovascular phenotype 2021-09-07 criteria provided, single submitter clinical testing The p.P955L variant (also known as c.2864C>T), located in coding exon 19 of the APOB gene, results from a C to T substitution at nucleotide position 2864. The proline at codon 955 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001875825 SCV002784010 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-13 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.