ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.508C>T (p.Arg170Cys)

gnomAD frequency: 0.00001  dbSNP: rs747885829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262160 SCV002542637 uncertain significance Autoinflammatory syndrome 2020-02-01 criteria provided, single submitter clinical testing
Invitae RCV003759090 SCV004553807 uncertain significance Cryopyrin associated periodic syndrome 2023-06-22 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NLRP3 protein function. ClinVar contains an entry for this variant (Variation ID: 1694438). This variant has not been reported in the literature in individuals affected with NLRP3-related conditions. This variant is present in population databases (rs747885829, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 172 of the NLRP3 protein (p.Arg172Cys).

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