Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000633946 | SCV000755219 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2017-12-25 | 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. This variant has not been reported in the literature in individuals with SDHB-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 SDHB gene (p.Tyr273*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 8 amino acids of the SDHB protein. |