Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838026 | SCV000777025 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-02-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358901 | SCV002619668 | uncertain significance | Cardiovascular phenotype | 2022-03-30 | criteria provided, single submitter | clinical testing | The p.I1342V variant (also known as c.4024A>G), located in coding exon 25 of the APOB gene, results from an A to G substitution at nucleotide position 4024. The isoleucine at codon 1342 is replaced by valine, an amino acid with highly 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. |