ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1212C>G (p.His404Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577134 SCV005060990 uncertain significance Familial cold autoinflammatory syndrome 4 criteria provided, single submitter clinical testing The observed missense c.1212C>G(p.His404Gln) variant in NLRC4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid His at position 404 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance.

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