Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001338485 | SCV001532152 | uncertain significance | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2020-07-31 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the PIGN gene (p.Gln854Hisfs*35). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 78 amino acids of the PIGN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PIGN-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |