ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.1645A>T (p.Ser549Cys) (rs139833874)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088695 SCV000767340 likely benign Cryopyrin associated periodic syndrome 2020-11-02 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768276 SCV000898854 uncertain significance Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1 2018-12-03 criteria provided, single submitter clinical testing NLRP3 NM_004895.4 exon 4 p.Ser549Cys (c.1645A>T): This variant has not been reported in the literature and is present in 0.3% (81/24950) of African alleles in the Genome Aggregation Database ( This variant is present in ClinVar (Variation ID:536887). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825794 SCV000967263 likely benign not specified 2019-01-16 criteria provided, single submitter clinical testing The p.Ser549Cys variant in NLRP3 is classified as likely benign because it has b een identified in 0.3% (81/24950) of African chromosomes by gnomAD (http://gnoma Computational prediction tools and conservation analysis suggest that this variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.
Athena Diagnostics Inc RCV000645590 SCV001144769 benign not provided 2019-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000645590 SCV001767111 uncertain significance not provided 2020-11-07 criteria provided, single submitter clinical testing Observed in two patients with NLRP3-related disorders in the published literature (Lane et al., 2015; Brighouse et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function

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