ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1568T>C (p.Ile523Thr)

dbSNP: rs781234577
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 RCV001859123 SCV002188285 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2025-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402548 SCV002708774 uncertain significance Cardiovascular phenotype 2023-12-15 criteria provided, single submitter clinical testing The p.I523T variant (also known as c.1568T>C), located in coding exon 12 of the APOB gene, results from a T to C substitution at nucleotide position 1568. The isoleucine at codon 523 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001859123 SCV002785910 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-10-12 criteria provided, single submitter clinical testing
GeneDx RCV003332299 SCV004039643 uncertain significance not provided 2023-04-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.