ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1507_*40del (p.Ala503fs)

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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 RCV003073306 SCV003476362 uncertain significance Immunodeficiency 39 2022-08-27 criteria provided, single submitter clinical testing 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 variant has not been reported in the literature in individuals affected with IRF7-related conditions. This variant is present in population databases (rs772699762, gnomAD 0.02%). This sequence change disrupts the translational stop signal of the IRF7 mRNA. It is expected to extend the length of the IRF7 protein by 0 additional amino acid residues.

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