ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.749_750del (p.Pro250fs)

dbSNP: rs1029179555
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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 RCV001228260 SCV001400650 uncertain significance Immunodeficiency 39 2023-09-11 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 955589). This variant has not been reported in the literature in individuals affected with IRF7-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Pro263Argfs*151) 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.

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