ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys)

gnomAD frequency: 0.00004  dbSNP: rs369910640
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493260 SCV000581816 uncertain significance not provided 2024-10-24 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance but additional evidence is not available (PMID: 32082075); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as E341K; This variant is associated with the following publications: (PMID: 19302049, 32082075)
Labcorp Genetics (formerly Invitae), Labcorp RCV001865536 SCV002281431 uncertain significance Cryopyrin associated periodic syndrome 2025-01-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 343 of the NLRP3 protein (p.Glu343Lys). This variant is present in population databases (rs369910640, 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: 429286). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002263701 SCV002542582 uncertain significance Autoinflammatory syndrome 2019-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496892 SCV002814002 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 2022-04-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000493260 SCV003815957 uncertain significance not provided 2022-05-30 criteria provided, single submitter clinical testing

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