ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1753C>A (p.Gln585Lys)

gnomAD frequency: 0.00004  dbSNP: rs140101603
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481136 SCV000569578 uncertain significance not provided 2017-03-23 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the APOB gene. The Q585K variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q585K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Nevertheless, this substitution occurs at a position that is not conserved, and lysine is tolerated at this position in several species. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function.
Mayo Clinic Laboratories, Mayo Clinic RCV000481136 SCV002541792 uncertain significance not provided 2021-06-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402399 SCV002714298 uncertain significance Cardiovascular phenotype 2023-02-23 criteria provided, single submitter clinical testing The p.Q585K variant (also known as c.1753C>A), located in coding exon 13 of the APOB gene, results from a C to A substitution at nucleotide position 1753. The glutamine at codon 585 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other vertebrate species. 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 RCV002475935 SCV002789496 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-31 criteria provided, single submitter clinical testing
Invitae RCV002475935 SCV002945776 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-10-26 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.