Submissions for variant NM_001243133.2(NLRP3):c.906C>T (p.Phe302=)

gnomAD frequency: 0.00011  dbSNP: rs756989752

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721371	SCV000531641	likely benign	not provided	2019-09-09	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000429880	SCV000966483	likely benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Phe304Phe in exon 5 of NLRP3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/8632 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs756989752).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000876657	SCV001019255	likely benign	Cryopyrin associated periodic syndrome	2023-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533094	SCV004723923	likely benign	NLRP3-related disorder	2019-08-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).