ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2425G>A (p.Gly809Ser)

gnomAD frequency: 0.00006  dbSNP: rs141389711
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000218819 SCV000278948 uncertain significance not provided 2022-09-22 criteria provided, single submitter clinical testing Identified in patients with autoinflammatory disease or recurrent fever in published literature, however, clinical details were not available or reported symptoms were atypical for an NLRP3-related disorder (Kubota et al., 2013; Nakayama et al., 2017; Demir et al., 2020; Hidaka et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate no significant increase in NF-kB reporter activity compared to wild-type, suggesting no damaging effect on gene function (Ohnishi et al., 2012; Kubota et al., 2013); Also known as c.2415G>A p.(G809S); This variant is associated with the following publications: (PMID: 33329557, 23015306, 32082075, 28421071, 32458238, 32552384, 28956000, 22193915, 31846928)
Labcorp Genetics (formerly Invitae), Labcorp RCV001087354 SCV001068391 likely benign Cryopyrin associated periodic syndrome 2024-01-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098560 SCV001254934 benign Chronic infantile neurological, cutaneous and articular syndrome 2017-09-06 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001098561 SCV001254935 benign Familial cold autoinflammatory syndrome 1 2017-09-06 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001098562 SCV001254936 benign Familial amyloid nephropathy with urticaria AND deafness 2017-09-06 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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