ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.214G>A (p.Val72Met) (rs117287351)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757572 SCV000885861 uncertain significance not provided 2017-06-08 criteria provided, single submitter clinical testing The NLRP3 c.214G>A;p.Val72Met variant has been listed in the medical literature in at least two individuals with autoinflammatory disease (Nakayama 2017). The variant is listed in the ClinVar database (Variation ID: 245593) and in the dbSNP variant database (rs117287351) with an allele frequency of up to 0.9 percent (171/18868 alleles) in East Asians in the Genome Aggregation Database. The amino acid at this position is conserved across species and computational algorithms (PolyPhen2, SIFT) predict this variant is deleterious. Considering available information, the clinical significance cannot be determined with certainty. If this variant is later determined to be pathogenic, this individual is predicted to be affected with autosomal dominant CINCA syndrome, Familial cold-induced inflammatory syndrome, or Muckle-Wells syndrome (OMIM#606416). References: Nakayama M et al. Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq. Biochem Biophys Rep 2017 9:146-152.
GeneDx RCV000236962 SCV000292541 likely benign not specified 2017-07-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000269968 SCV000356905 likely benign Chronic infantile neurological, cutaneous and articular syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327334 SCV000356906 likely benign Familial amyloid nephropathy with urticaria AND deafness 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384324 SCV000356907 likely benign Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000645586 SCV000767336 benign Cryopyrin associated periodic syndrome 2017-12-09 criteria provided, single submitter clinical testing

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