ClinVar Miner

Submissions for variant NM_002163.4(IRF8):c.381T>A (p.Ala127=)

dbSNP: rs780856170
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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 RCV001925222 SCV002169036 uncertain significance Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2021-12-10 criteria provided, single submitter clinical testing This variant is present in population databases (rs780856170, gnomAD 0.003%). This sequence change affects codon 127 of the IRF8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IRF8 protein. This variant has not been reported in the literature in individuals affected with IRF8-related conditions. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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