Submissions for variant NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr)

gnomAD frequency: 0.00002  dbSNP: rs201096167

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000874939	SCV001017186	likely benign	Cryopyrin associated periodic syndrome	2023-11-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001572321	SCV001796937	uncertain significance	not provided	2020-09-25	criteria provided, single submitter	clinical testing	Identified in a patient with Muckle-Wells syndrome in published literature (Karacan et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30783801)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002264036	SCV002542619	likely benign	Autoinflammatory syndrome	2017-11-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001572321	SCV004009963	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	NLRP3: BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001572321	SCV001978283	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001572321	SCV001978716	likely benign	not provided		no assertion criteria provided	clinical testing