ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) (rs35829419)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246002 SCV000310709 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282807 SCV000356977 benign Familial cold urticaria 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 Clinical Services Laboratory,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 Clinical Services Laboratory,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 Praxis fuer Humangenetik Tuebingen RCV000416176 SCV000493426 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare 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 RCV000246002 SCV000604550 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV000531876 SCV000646265 benign Cryopyrin associated periodic syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000416176 SCV001144770 benign not provided 2018-12-31 criteria provided, single submitter clinical testing

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