Submissions for variant NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=)

gnomAD frequency: 0.00548  dbSNP: rs41311573

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202912	SCV000257841	benign	not specified	2015-06-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891774	SCV000310704	benign	NLRP3-related condition	2021-02-11	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Eurofins Ntd Llc (ga)	RCV000202912	SCV000331370	benign	not specified	2016-05-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000393245	SCV000356936	benign	Familial cold autoinflammatory syndrome 1	2018-03-06	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	RCV000514064	SCV000604555	benign	not provided	2023-08-24	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514064	SCV000610270	benign	not provided	2017-05-10	criteria provided, single submitter	clinical testing
Invitae	RCV001085201	SCV000646259	benign	Cryopyrin associated periodic syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000202912	SCV000732035	benign	not specified	2017-12-21	criteria provided, single submitter	clinical testing	p.Pro342Pro in exon 5 of NLRP3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.7% (913/125988) of European chromosomes including homozygotes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs41311573). ACMG/AMP criteri a applied: BS1, BP7 .
Athena Diagnostics Inc	RCV000514064	SCV001144766	benign	not provided	2019-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096616	SCV001252838	benign	Familial amyloid nephropathy with urticaria AND deafness	2018-03-06	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	RCV001096617	SCV001252839	benign	Chronic infantile neurological, cutaneous and articular syndrome	2018-03-06	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.
GeneDx	RCV000514064	SCV001753542	likely benign	not provided	2021-01-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30245029)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262797	SCV002542581	benign	Autoinflammatory syndrome	2022-03-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514064	SCV002544403	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NLRP3: BP4, BP7, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000202912	SCV001929369	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514064	SCV001968455	likely benign	not provided		no assertion criteria provided	clinical testing