Submissions for variant NM_004895.4(NLRP3):c.1407C>T (p.Leu469=) (rs141637807)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127221	SCV000170775	benign	not specified	2014-02-16	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.
Invitae	RCV001080969	SCV000767338	likely benign	Cryopyrin associated periodic syndrome	2019-12-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756442	SCV000884260	likely benign	not provided	2017-06-30	criteria provided, single submitter	clinical testing	The NLRP3 c.1407C>T;p.Leu469Leu variant is not described in the medical literature or in gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 138531) and the dbSNP variant database (rs141637807) with an allele frequency of 0.0231 percent (3/13003 alleles) in the Exome Variant Server and 0.03269 percent (89/27224 alleles) in the Genome Aggregation Database. The nucleotide at this position is weakly conserved across species and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict this variant does not change splicing. Considering available information, this variant is classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000756442	SCV000891899	likely benign	not provided	2018-06-01	criteria provided, single submitter	clinical testing