Submissions for variant NM_001243133.2(NLRP3):c.269C>T (p.Pro90Leu)

gnomAD frequency: 0.00003  dbSNP: rs145774400

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756444	SCV000884262	uncertain significance	not provided	2017-08-27	criteria provided, single submitter	clinical testing	The NLRP3 c.275C>T;p.Pro92Leu variant has not been described in the medical literature, in gene-specific databases, or in the ClinVar database. The variant is listed in the dbSNP variant database (rs145774400) with an allele frequency of 0.0077 percent (1/13005 alleles) in the Exome Variant Server and 0.002598 percent (7/269482 alleles) in the Genome Aggregation Database. The amino acid at this position is not well conserved across species, several mammals have a leucine at this position, and computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is tolerated. Taken together, there is insufficient evidence to classify this variant with certainty. Pathogenic NLRP3 variants are causative for autosomal dominant Muckle-Wells syndrome, CINCA syndrome, or familial cold induced inflammatory syndrome (MIM#606416).
Labcorp Genetics (formerly Invitae), Labcorp	RCV002536560	SCV003031394	likely benign	Cryopyrin associated periodic syndrome	2023-12-18	criteria provided, single submitter	clinical testing