ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3365G>T (p.Gly1122Val)

dbSNP: rs1366616257
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002491520 SCV002800158 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV005384958 SCV006044885 uncertain significance Cardiovascular phenotype 2024-12-13 criteria provided, single submitter clinical testing The p.G1122V variant (also known as c.3365G>T), located in coding exon 22 of the APOB gene, results from a G to T substitution at nucleotide position 3365. The glycine at codon 1122 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant 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.