ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1140G>A (p.Val380=)

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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 RCV002741829 SCV003023831 uncertain significance Immunodeficiency 39 2022-10-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with IRF7-related conditions. This sequence change affects codon 393 of the IRF7 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IRF7 protein.

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