Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000529431 | SCV000646391 | uncertain significance | Loeys-Dietz syndrome 2 | 2020-03-05 | criteria provided, single submitter | clinical testing | In summary, this variant has uncertain impact on TMPO function. The available evidence is currently insufficient to determine its role 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 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 with a TMPO-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 39 of the TMPO protein (p.Gln39His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. |