ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1364C>T (p.Pro455Leu)

gnomAD frequency: 0.00001  dbSNP: rs370946255
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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 RCV002029663 SCV002306057 uncertain significance Immunodeficiency 39 2022-12-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IRF7-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IRF7 protein function. ClinVar contains an entry for this variant (Variation ID: 1514932). This variant is present in population databases (rs370946255, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 468 of the IRF7 protein (p.Pro468Leu).

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