ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1323C>T (p.Tyr441=)

gnomAD frequency: 0.00006  dbSNP: rs200269703
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608936 SCV000714748 likely benign not specified 2018-02-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001482913 SCV001687292 likely benign Cryopyrin associated periodic syndrome 2023-12-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263821 SCV002542596 uncertain significance Autoinflammatory syndrome 2019-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311858 SCV004009962 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing NLRP3: BP4, BP7

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