ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.890T>A (p.Val297Glu)

dbSNP: rs1573494293
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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 RCV000800820 SCV000940556 uncertain significance Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2018-11-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NLRC4-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glutamic acid at codon 297 of the NLRC4 protein (p.Val297Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid. 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.

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