Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001219208 | SCV001391133 | uncertain significance | Cryopyrin associated periodic syndrome | 2021-09-29 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with NLRP3-related conditions. This variant is present in population databases (rs199680838, ExAC 0.002%). This sequence change replaces serine with proline at codon 387 of the NLRP3 protein (p.Ser387Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. |