ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=)

gnomAD frequency: 0.00638  dbSNP: rs148478875
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252898 SCV000310705 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000084177 SCV000356946 benign Familial cold autoinflammatory syndrome 1 2018-01-13 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 RCV000377739 SCV000356947 benign Familial amyloid nephropathy with urticaria AND deafness 2018-01-13 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 RCV000266872 SCV000356948 benign Chronic infantile neurological, cutaneous and articular syndrome 2018-01-13 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 RCV000755588 SCV000604554 benign not provided 2023-11-09 criteria provided, single submitter clinical testing
Invitae RCV001080970 SCV000646261 benign Cryopyrin associated periodic syndrome 2024-01-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000252898 SCV000731899 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Leu413Leu in exon 5 of NLRP3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.92% (616/66676) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs148478875).
Athena Diagnostics RCV000755588 SCV001144767 benign not provided 2019-07-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000755588 SCV001747516 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing ENSG00000289728: BS2
GeneDx RCV000755588 SCV001881183 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262689 SCV002543623 benign Autoinflammatory syndrome 2022-04-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294024 SCV002587221 benign Focal segmental glomerulosclerosis 2022-05-17 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084177 SCV000116309 not provided Familial cold autoinflammatory syndrome 1 no assertion provided not provided

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