Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838410 | SCV001513419 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379726 | SCV002693678 | uncertain significance | Cardiovascular phenotype | 2020-06-29 | criteria provided, single submitter | clinical testing | The p.A448V variant (also known as c.1343C>T), located in coding exon 10 of the APOB gene, results from a C to T substitution at nucleotide position 1343. The alanine at codon 448 is replaced by valine, 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. |