Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001760847 | SCV001991477 | uncertain significance | not provided | 2019-07-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
| Ambry Genetics | RCV002343824 | SCV002646884 | likely benign | Cardiovascular phenotype | 2024-11-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Fulgent Genetics, |
RCV002488555 | SCV002792610 | uncertain significance | Aortic aneurysm, familial thoracic 10 | 2021-09-21 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001760847 | SCV002943916 | uncertain significance | not provided | 2024-11-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 165 of the LOX protein (p.Gly165Arg). This variant is present in population databases (rs749364042, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with LOX-related conditions. ClinVar contains an entry for this variant (Variation ID: 1307429). 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 not expected to disrupt LOX protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |