ClinVar Miner

Submissions for variant NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?)

gnomAD frequency: 0.00001  dbSNP: rs1567479117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707337 SCV000836429 uncertain significance Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2023-11-24 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the IRF8 mRNA. It is expected to extend the length of the IRF8 protein by 42 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This protein extension has been observed in individual(s) with combined immunodeficiency (PMID: 32499645, 35753512). ClinVar contains an entry for this variant (Variation ID: 583095). 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.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027585 SCV001190154 pathogenic Inherited Immunodeficiency Diseases 2019-01-01 criteria provided, single submitter research
GeneDx RCV001766566 SCV001991425 uncertain significance not provided 2019-07-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Normal stop codon changed to a L codon, leading to the addition of 42 amino acids at the C-terminus; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32499645)

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