ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2812G>A (p.Asp938Asn)

gnomAD frequency: 0.00002  dbSNP: rs201260331
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262158 SCV002542626 uncertain significance Autoinflammatory syndrome 2021-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488658 SCV002789525 uncertain significance Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; Hearing loss, autosomal dominant 34, with or without inflammation 2021-08-23 criteria provided, single submitter clinical testing
Invitae RCV003594175 SCV004290376 uncertain significance Cryopyrin associated periodic syndrome 2023-11-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 940 of the NLRP3 protein (p.Asp940Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NLRP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1694436). 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 with a negative predictive value of 95%. 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.

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