ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=)

gnomAD frequency: 0.00007  dbSNP: rs201976178
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420983 SCV000526167 likely benign not specified 2016-03-22 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 RCV001504602 SCV001709487 likely benign Cryopyrin associated periodic syndrome 2023-12-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263685 SCV002542595 uncertain significance Autoinflammatory syndrome 2021-06-04 criteria provided, single submitter clinical testing

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