ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1357-5G>A

dbSNP: rs1856508713
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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 RCV001071791 SCV001237112 uncertain significance Immunodeficiency 39 2023-08-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 864571). This sequence change falls in intron 8 of the IRF7 gene. It does not directly change the encoded amino acid sequence of the IRF7 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IRF7-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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