Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494563 | SCV000581921 | uncertain significance | not provided | 2017-05-08 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the APOB gene. The R1599L variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1599L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, this substitution occurs at a position that is conserved in mammals. Moreover, in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with FH (Stenson et al., 2014). |
Ambry Genetics | RCV003302727 | SCV004000637 | uncertain significance | Cardiovascular phenotype | 2023-03-20 | criteria provided, single submitter | clinical testing | The p.R1599L variant (also known as c.4796G>T), located in coding exon 26 of the APOB gene, results from a G to T substitution at nucleotide position 4796. The arginine at codon 1599 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |
Invitae | RCV003766769 | SCV004608933 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-01-27 | criteria provided, single submitter | clinical testing |