Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439284 | SCV000534722 | uncertain significance | not provided | 2016-12-15 | criteria provided, single submitter | clinical testing | The L1277F variant in the APOB gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L1277F variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L1277F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L1277F as a variant of uncertain significance. |
Invitae | RCV001837897 | SCV001683352 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-04-09 | criteria provided, single submitter | clinical testing |