Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002370046 | SCV002667653 | uncertain significance | Cardiovascular phenotype | 2021-07-08 | criteria provided, single submitter | clinical testing | The p.E2290K variant (also known as c.6868G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 6868. The glutamic acid at codon 2290 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. |
Invitae | RCV002535538 | SCV003289211 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-11-21 | criteria provided, single submitter | clinical testing |