ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.761C>T (p.Thr254Met)

gnomAD frequency: 0.00001  dbSNP: rs571836045
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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 RCV001227354 SCV001399707 uncertain significance Immunodeficiency 39 2019-11-05 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 267 of the IRF7 protein (p.Thr267Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. 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 missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IRF7-related conditions. This variant is present in population databases (rs571836045, ExAC 0.01%).

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