ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1079T>A (p.Leu360Gln)

gnomAD frequency: 0.00012  dbSNP: rs201593863
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825678 SCV000967101 benign not specified 2019-02-15 criteria provided, single submitter clinical testing The p.Leu362Gln variant in NLRP3 is classified as benign because it has been identified in 0.1% (30/25116) of Finnish chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
Labcorp Genetics (formerly Invitae), Labcorp RCV001441694 SCV001644627 likely benign Cryopyrin associated periodic syndrome 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001574355 SCV001801160 uncertain significance not provided 2024-06-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19302049)

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