ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1153T>C (p.Ser385Pro)

dbSNP: rs199680838
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Total submissions: 1
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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.

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