ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1390G>A (p.Gly464Ser)

dbSNP: rs1589916143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792948 SCV000932279 uncertain significance Immunodeficiency 39 2018-08-08 criteria provided, single submitter clinical testing 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 serine 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. 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. This sequence change replaces glycine with serine at codon 477 of the IRF7 protein (p.Gly477Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IRF7-related disease.
Breakthrough Genomics, Breakthrough Genomics RCV004692246 SCV005191079 uncertain significance not provided criteria provided, single submitter not provided

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