ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.261A>G (p.Gln87=)

dbSNP: rs2148943725
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001898510 SCV002158636 uncertain significance Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2022-08-23 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1394372). This variant has not been reported in the literature in individuals affected with NLRC4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 87 of the NLRC4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NLRC4 protein. It affects a nucleotide within the consensus splice site.

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