ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1368G>A (p.Trp456Ter)

gnomAD frequency: 0.00001  dbSNP: rs758818635
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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 RCV001370890 SCV001567434 uncertain significance Immunodeficiency 39 2023-04-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1061328). This variant has not been reported in the literature in individuals affected with IRF7-related conditions. This variant is present in population databases (rs758818635, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Trp469*) in the IRF7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the IRF7 protein. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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