ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.397+6C>T

gnomAD frequency: 0.00002  dbSNP: rs201165941
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324120 SCV001515062 uncertain significance Cryopyrin associated periodic syndrome 2021-06-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with NLRP3-related conditions. This variant is present in population databases (rs201165941, ExAC 0.003%). This sequence change falls in intron 2 of the NLRP3 gene. It does not directly change the encoded amino acid sequence of the NLRP3 protein, but it affects a nucleotide within the consensus splice site of the intron.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264268 SCV002542633 uncertain significance Autoinflammatory syndrome 2021-03-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504508 SCV002816180 uncertain significance Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; Hearing loss, autosomal dominant 34, with or without inflammation 2021-12-21 criteria provided, single submitter clinical testing

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