Submissions for variant NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=)

gnomAD frequency: 0.08679  dbSNP: rs34298354

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244073	SCV000310706	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000345895	SCV000356952	benign	Familial amyloid nephropathy with urticaria AND deafness	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000384276	SCV000356953	benign	Chronic infantile neurological, cutaneous and articular syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000292239	SCV000356954	benign	Familial cold autoinflammatory syndrome 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001706344	SCV000604549	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000244073	SCV000731654	benign	not specified	2017-11-22	criteria provided, single submitter	clinical testing	p.Ser436Ser in exon 5 of NLRP3: This variant is not expected to have clinical si gnificance because it has been identified in 12.65% (16000/126506) of European c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org/; dbSNP rs34298354).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514832	SCV001722773	benign	Cryopyrin associated periodic syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001706344	SCV001852103	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000292239	SCV002026813	benign	Familial cold autoinflammatory syndrome 1	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000384276	SCV002026814	benign	Chronic infantile neurological, cutaneous and articular syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001782745	SCV002026815	benign	Keratitis fugax hereditaria	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000345895	SCV002026816	benign	Familial amyloid nephropathy with urticaria AND deafness	2021-09-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001706344	SCV005283576	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000244073	SCV001740943	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000244073	SCV001926638	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000244073	SCV001959113	benign	not specified		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV001706344	SCV002074716	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.