ClinVar Miner

Submissions for variant NM_002163.4(IRF8):c.1104G>A (p.Gln368=)

gnomAD frequency: 0.00017  dbSNP: rs377181003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761942 SCV000892169 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000797259 SCV000936808 uncertain significance Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2024-01-02 criteria provided, single submitter clinical testing This sequence change affects codon 368 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 also falls at the last nucleotide of exon 8, which is part of the consensus splice site for this exon. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with IRF8-related conditions. ClinVar contains an entry for this variant (Variation ID: 623891). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000761942 SCV002010490 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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