Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001869177 | SCV002273763 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002458405 | SCV002739895 | uncertain significance | Cardiovascular phenotype | 2023-04-09 | criteria provided, single submitter | clinical testing | The p.R3698G variant (also known as c.11092A>G), located in coding exon 26 of the APOB gene, results from an A to G substitution at nucleotide position 11092. The arginine at codon 3698 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not 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. |
| Stanford Center for Inherited Cardiovascular Disease, |
RCV000786107 | SCV000924753 | uncertain significance | not provided | 2017-06-27 | no assertion criteria provided | provider interpretation | p.Arg3695Gly (c.11092A>G; p.R3698G; chr2-21228648-T-C) in exon 26 of the APOB gene (NM_000384.2) Given the lack of case data on this variant, and the low prevalence of this variant in the general population, we consider this variant a variant of uncertain significance and we do not feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). There is no case data available for review pertaining to this variant. The arginine at codon 3695 is poorly conserved across species. Neighboring amino acids are also poorly conserved. No other nearby variants at this codon or nearby codons have been reported in association with disease. The variant was reported online in 2 of 122,669 individuals in the Genome Aggregation Consortium Dataset (gnomAD; http://gnomad.broadinstitute.org/), which currently includes variant calls on >140,000 unrelated individuals of African, Asian, European, Ashkenazi, Latino descent. Specifically, the variant was observed in 2 of 55,657 individuals of European descent (MAF=0.002%). The phenotype of those individuals is not publicly available. The dataset is comprised of multiple cohorts, some of which were recruited from the general population, others were enriched for common cardiovascular disease. |