ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.2802C>G (p.Asn934Lys)

gnomAD frequency: 0.00002  dbSNP: rs748341490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002038203 SCV002294426 uncertain significance Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2022-02-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with NLRC4-related conditions. This variant is present in population databases (rs748341490, gnomAD 0.02%). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 934 of the NLRC4 protein (p.Asn934Lys). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264446 SCV002542405 uncertain significance Autoinflammatory syndrome 2018-07-01 criteria provided, single submitter clinical testing

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