ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1122C>A (p.Cys374Ter)

dbSNP: rs746520294
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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 RCV001321632 SCV001512469 uncertain significance Immunodeficiency 39 2020-08-10 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in IRF7 cause disease. This variant has not been reported in the literature in individuals with IRF7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys387*) in the IRF7 gene. It is expected to result in an absent or disrupted protein product.

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