Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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, |
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 |