Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mayo Clinic Laboratories, |
RCV001507853 | SCV001713673 | uncertain significance | not provided | 2019-07-15 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001507853 | SCV002008966 | uncertain significance | not provided | 2024-05-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function |
| Labcorp Genetics |
RCV001507853 | SCV002293972 | uncertain significance | not provided | 2024-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 43 of the FBLN5 protein (p.Ile43Val). This variant is present in population databases (rs143928468, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with FBLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1163083). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Ambry Genetics | RCV002567979 | SCV003733832 | likely benign | Inborn genetic diseases | 2021-08-02 | 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. |
| Institute of Human Genetics, |
RCV004815536 | SCV005070244 | uncertain significance | Retinal dystrophy | 2023-01-01 | no assertion criteria provided | clinical testing |