Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002459702 | SCV002738584 | uncertain significance | Inborn genetic diseases | 2022-03-04 | criteria provided, single submitter | clinical testing | The p.T803M variant (also known as c.2408C>T), located in coding exon 17 of the LTBP3 gene, results from a C to T substitution at nucleotide position 2408. The threonine at codon 803 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. 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. |
Labcorp Genetics |
RCV003098863 | SCV003302811 | uncertain significance | Brachyolmia-amelogenesis imperfecta syndrome | 2022-07-05 | 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: "Tolerated"; 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 present in population databases (rs767314508, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 803 of the LTBP3 protein (p.Thr803Met). |