ClinVar Miner

Submissions for variant NM_016123.4(IRAK4):c.783A>G (p.Val261=)

gnomAD frequency: 0.00001  dbSNP: rs1465941653
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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 RCV000640677 SCV000762272 uncertain significance Immunodeficiency 67 2021-11-06 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 533524). This variant has not been reported in the literature in individuals affected with IRAK4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 261 of the IRAK4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IRAK4 protein.

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