ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.553C>T (p.Gln185Ter)

gnomAD frequency: 0.00004  dbSNP: rs756347258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002236 SCV002230807 uncertain significance Immunodeficiency 39 2022-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln198*) in the IRF7 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in IRF7 cause disease. This variant is present in population databases (rs756347258, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with IRF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1448392). 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321886 SCV004027115 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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