Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001984615 | SCV002214007 | likely pathogenic | not provided | 2024-12-16 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 397 of the LOX protein (p.Arg397His). This variant is present in population databases (rs749796906, gnomAD 0.007%). This missense change has been observed in individuals with thoracic aortic aneurysm and/or dissection (internal data). ClinVar contains an entry for this variant (Variation ID: 1434346). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt LOX protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Ambry Genetics | RCV002334927 | SCV002644557 | uncertain significance | Cardiovascular phenotype | 2022-02-28 | criteria provided, single submitter | clinical testing | The p.R397H variant (also known as c.1190G>A), located in coding exon 6 of the LOX gene, results from a G to A substitution at nucleotide position 1190. The arginine at codon 397 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Revvity Omics, |
RCV003130621 | SCV003817022 | uncertain significance | Aortic aneurysm, familial thoracic 10 | 2019-10-03 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001984615 | SCV003837419 | uncertain significance | not provided | 2024-06-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |