Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002343634 | SCV002650188 | uncertain significance | Cardiovascular phenotype | 2021-02-23 | criteria provided, single submitter | clinical testing | The p.A403V variant (also known as c.1208C>T), located in coding exon 10 of the APOB gene, results from a C to T substitution at nucleotide position 1208. The alanine at codon 403 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine 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. |
Invitae | RCV003768394 | SCV004571901 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-11-24 | criteria provided, single submitter | clinical testing |