Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000645707 | SCV000767459 | uncertain significance | Loeys-Dietz syndrome 2 | 2017-10-11 | criteria provided, single submitter | clinical testing | The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TMPO cause disease. 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. This variant has not been reported in the literature in individuals with TMPO-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the TMPO gene (p.Cys561*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 134 amino acids of the TMPO protein. |