Submissions for variant NM_001243133.2(NLRP3):c.930C>T (p.Asp310=)

gnomAD frequency: 0.00076  dbSNP: rs143840033

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250475	SCV000310713	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001085968	SCV000646277	benign	Cryopyrin associated periodic syndrome	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000537281	SCV001144773	benign	not provided	2019-08-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001100029	SCV001256527	benign	Familial amyloid nephropathy with urticaria AND deafness	2018-03-20	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	RCV001100030	SCV001256528	benign	Chronic infantile neurological, cutaneous and articular syndrome	2018-03-20	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	RCV000084249	SCV001256529	benign	Familial cold autoinflammatory syndrome 1	2018-03-20	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	RCV000537281	SCV001471978	likely benign	not provided	2023-08-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000537281	SCV001843155	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262698	SCV002542649	benign	Autoinflammatory syndrome	2021-02-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000537281	SCV002544402	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NLRP3: BP4, BP7, BS1
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000084249	SCV000116385	not provided	Familial cold autoinflammatory syndrome 1		no assertion provided	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000537281	SCV001930528	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000537281	SCV001971302	likely benign	not provided		no assertion criteria provided	clinical testing