ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.742C>A (p.Pro248Thr)

gnomAD frequency: 0.00006  dbSNP: rs1034388681
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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 RCV000815885 SCV000956363 uncertain significance Immunodeficiency 39 2022-06-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IRF7-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 261 of the IRF7 protein (p.Pro261Thr). ClinVar contains an entry for this variant (Variation ID: 658958). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0").

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