ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.865G>A (p.Val289Met)

gnomAD frequency: 0.00002  dbSNP: rs145092553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001907652 SCV002129206 uncertain significance Cryopyrin associated periodic syndrome 2025-01-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 291 of the NLRP3 protein (p.Val291Met). This variant is present in population databases (rs145092553, gnomAD 0.01%). 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: 1364715). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264408 SCV002542647 uncertain significance Autoinflammatory syndrome 2020-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023320 SCV005652786 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 2023-12-24 criteria provided, single submitter clinical testing

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