Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003592902 | SCV004276782 | uncertain significance | Brachyolmia-amelogenesis imperfecta syndrome | 2023-03-09 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1083 of the LTBP3 protein (p.Val1083Leu). |
Ambry Genetics | RCV004369139 | SCV005038394 | uncertain significance | Inborn genetic diseases | 2024-03-13 | criteria provided, single submitter | clinical testing | The p.V1083L variant (also known as c.3247G>T), located in coding exon 24 of the LTBP3 gene, results from a G to T substitution at nucleotide position 3247. The valine at codon 1083 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |