Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838153 | SCV001214411 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440605 | SCV002681486 | uncertain significance | Cardiovascular phenotype | 2020-12-29 | criteria provided, single submitter | clinical testing | The p.A2790T variant (also known as c.8368G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 8368. The alanine at codon 2790 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available 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. |