ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5507T>G (p.Ile1836Arg)

gnomAD frequency: 0.00001  dbSNP: rs772402035
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003166059 SCV003858238 uncertain significance Cardiovascular phenotype 2022-12-01 criteria provided, single submitter clinical testing The p.I1836R variant (also known as c.5507T>G), located in coding exon 26 of the APOB gene, results from a T to G substitution at nucleotide position 5507. The isoleucine at codon 1836 is replaced by arginine, 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.

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.