ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.344C>T (p.Pro115Leu)

gnomAD frequency: 0.00001  dbSNP: rs747596779
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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 RCV001923095 SCV002183628 uncertain significance Immunodeficiency 39 2023-07-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 128 of the IRF7 protein (p.Pro128Leu). This variant is present in population databases (rs747596779, gnomAD 0.008%). This missense change has been observed in individual(s) with severe influenza (PMID: 31172279). This variant is also known as c.334C>T (p.P115L). ClinVar contains an entry for this variant (Variation ID: 1412123). 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. 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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