Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002541944 | SCV001490413 | uncertain significance | Rienhoff syndrome | 2020-12-03 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with TGFB3-related conditions. 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 is present in population databases (rs770761155, ExAC 0.003%). This sequence change replaces threonine with methionine at codon 19 of the TGFB3 protein (p.Thr19Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. |