Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001913324 | SCV002175744 | uncertain significance | Brachyolmia-amelogenesis imperfecta syndrome | 2021-06-29 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 714 of the LTBP3 protein (p.Pro714Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. |
| Ambry Genetics | RCV003375423 | SCV004096776 | uncertain significance | Inborn genetic diseases | 2023-09-06 | criteria provided, single submitter | clinical testing | The p.P714R variant (also known as c.2141C>G), located in coding exon 15 of the LTBP3 gene, results from a C to G substitution at nucleotide position 2141. The proline at codon 714 is replaced by arginine, 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. |