ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1391G>A (p.Gly464Asp)

dbSNP: rs1350285168
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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 RCV001962212 SCV002131333 uncertain significance Immunodeficiency 39 2021-01-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with IRF7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 477 of the IRF7 protein (p.Gly477Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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