Submissions for variant NM_001243133.2(NLRP3):c.789C>T (p.Ser263=)

gnomAD frequency: 0.00089  dbSNP: rs146442638

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000235892	SCV000292542	benign	not specified	2015-08-04	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812660	SCV000604556	benign	not provided	2022-03-02	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000235892	SCV000731937	likely benign	not specified	2017-12-21	criteria provided, single submitter	clinical testing	p.Ser265Ser 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 0.25% (61/24016) o f African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad .broadinstitute.org; dbSNP rs146442638). ACMG/AMP criteria applied: BS1, BP7.
Invitae	RCV000885022	SCV001028444	benign	Cryopyrin associated periodic syndrome	2024-01-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262850	SCV002542646	likely benign	Autoinflammatory syndrome	2021-09-21	criteria provided, single submitter	clinical testing