Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001838122 | SCV000835906 | benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-12-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001838122 | SCV002775831 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2021-10-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004026732 | SCV003738249 | uncertain significance | Cardiovascular phenotype | 2023-07-06 | criteria provided, single submitter | clinical testing | The p.I337N variant (also known as c.1010T>A), located in coding exon 9 of the APOB gene, results from a T to A substitution at nucleotide position 1010. The isoleucine at codon 337 is replaced by asparagine, an amino acid with dissimilar 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV004997215 | SCV005624768 | uncertain significance | not provided | 2023-10-31 | criteria provided, single submitter | clinical testing | The APOB c.1010T>A (p.Ile337Asn) variant has not been reported in individuals with APOB-related conditions in the published literature. The frequency of this variant in the general population, 0.0002 (5/24960 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. 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. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV004026732 | SCV006067213 | uncertain significance | Cardiovascular phenotype | 2025-04-09 | criteria provided, single submitter | clinical testing |