ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1379C>T (p.Thr460Met)

gnomAD frequency: 0.00001  dbSNP: rs1206027883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262083 SCV002542369 uncertain significance Autoinflammatory syndrome 2021-04-16 criteria provided, single submitter clinical testing
Invitae RCV003774821 SCV004579650 uncertain significance Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2023-04-07 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NLRC4 protein function. ClinVar contains an entry for this variant (Variation ID: 1694361). This variant has not been reported in the literature in individuals affected with NLRC4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 460 of the NLRC4 protein (p.Thr460Met).

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