Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001212866 | SCV001384468 | uncertain significance | Cryopyrin associated periodic syndrome | 2020-04-30 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the NLRP3 gene (p.Glu1007*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acids of the NLRP3 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NLRP3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) 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. |