Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284273 | SCV001469958 | uncertain significance | not provided | 2023-08-02 | criteria provided, single submitter | clinical testing | To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.0014 (35/24960 chromosomes in African/African American subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |
| Invitae | RCV001838409 | SCV001701274 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-03 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002379723 | SCV002691226 | uncertain significance | Cardiovascular phenotype | 2019-09-13 | criteria provided, single submitter | clinical testing | The p.D3289E variant (also known as c.9867C>A), located in coding exon 26 of the APOB gene, results from a C to A substitution at nucleotide position 9867. The aspartic acid at codon 3289 is replaced by glutamic acid, an amino acid with highly 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. |