ClinVar Miner

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

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Total submissions: 4
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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

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