ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2834+1G>A (rs1572228102)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027795 SCV001190405 uncertain significance Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold urticaria 2019-08-07 criteria provided, single submitter clinical testing NLRP3 NM_004895.4 exon 7 c.2840+1G>A: This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant alters the consensus splice sequence (+/- 1,2) which is predicted to result in an absent or abnormal protein. However, loss of function variants have not been established as a known mechanism of disease for this gene; gain of function mutations are most commonly reported in association with disease in this gene (de Torre-Minguela 2017 PMID:28191008). In summary, data on this variant is suspicious for disease, but requires further evidence for pathogenicity. Therefore, the clinical significance of this variant is uncertain.

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