ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.318C>G (p.Asn106Lys)

gnomAD frequency: 0.00006  dbSNP: rs371662800
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
Invitae RCV001837977 SCV000659279 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325108 SCV002609388 uncertain significance Cardiovascular phenotype 2022-02-14 criteria provided, single submitter clinical testing The p.N106K variant (also known as c.318C>G), located in coding exon 4 of the APOB gene, results from a C to G substitution at nucleotide position 318. The asparagine at codon 106 is replaced by lysine, 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.