ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)

gnomAD frequency: 0.03262  dbSNP: rs35829419
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246002 SCV000310709 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282807 SCV000356977 benign Familial cold autoinflammatory syndrome 1 2017-04-27 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 RCV000340224 SCV000356978 benign Chronic infantile neurological, cutaneous and articular syndrome 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000394881 SCV000356979 benign Familial amyloid nephropathy with urticaria AND deafness 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV000416176 SCV000493426 benign not provided 2022-03-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000246002 SCV000539915 benign not specified 2019-01-22 criteria provided, single submitter clinical testing The p.Gln705Lys variant in NLRP3 is classified as benign because it has been identified in 3.8% (10781/280716) of total chromosomes, including 266 homozygotes, by gnomAD (http://gnomad.broadinstitute.org). Although this variant has been reported in association with autoimmune or inflammatory conditions, several studies have shown equal frequency in cases and ethnically matched controls (Jenko 2016, Lidar 2017, Naselli 2016, Yang 2017). ACMG/AMP criteria: BA1.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000416176 SCV000604550 benign not provided 2023-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000531876 SCV000646265 benign Cryopyrin associated periodic syndrome 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000416176 SCV001144770 benign not provided 2018-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000416176 SCV001752083 benign not provided 2019-01-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32477355, 26178285, 32199921, 22843550, 30245029, 29148409, 28638818, 28692792, 29977033, 29265930, 30140708, 29610014, 27576327, 29770580, 23215645, 29850521, 29230505, 22128899, 17509468, 22529966, 28028683, 26020059, 27036377, 27943647, 26848126, 27884173, 22403613, 22995991, 20182451, 25596455, 22935299, 18311798, 21245836, 19319132, 20981092, 29097263, 29500522, 30447690, 30536174)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262891 SCV002543634 benign Autoinflammatory syndrome 2022-02-10 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000416176 SCV002568170 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing PS3, BS1, BP4
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294151 SCV002587265 benign Focal segmental glomerulosclerosis 2022-09-02 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000246002 SCV001744269 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000246002 SCV001932757 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000246002 SCV001954109 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000246002 SCV001972988 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000416176 SCV002036408 likely benign not provided no assertion criteria provided clinical testing

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