ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2151-9A>C

gnomAD frequency: 0.00004  dbSNP: rs762817427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001438289 SCV001641161 likely benign Cryopyrin associated periodic syndrome 2023-09-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323880 SCV004028899 uncertain significance not specified 2023-07-17 criteria provided, single submitter clinical testing Variant summary: NLRP3 c.2157-9A>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict either no significant impact on normal splicing or strengthening of a canonical 3' splicing acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.8e-05 in 251134 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2157-9A>C in individuals affected with NLRP3-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited a clinical-significance assessment for this variant to ClinVar after 2014 and has classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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