Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002370047 | SCV002625116 | uncertain significance | Cardiovascular phenotype | 2023-01-05 | criteria provided, single submitter | clinical testing | The p.G1327R variant (also known as c.3979G>A), located in coding exon 25 of the APOB gene, results from a G to A substitution at nucleotide position 3979. The glycine at codon 1327 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well 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. |
Fulgent Genetics, |
RCV002477774 | SCV002775227 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-07-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002477774 | SCV003253008 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-18 | criteria provided, single submitter | clinical testing |