ClinVar Miner

Submissions for variant NM_016123.4(IRAK4):c.225CAC[1] (p.Thr77del)

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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 RCV003058372 SCV003441071 uncertain significance Immunodeficiency 67 2022-09-27 criteria provided, single submitter clinical testing This variant, c.228_230del, results in the deletion of 1 amino acid(s) of the IRAK4 protein (p.Thr77del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with IRAK-4 deficiency (PMID: 23538514). This variant is also known as c.28_30delCAC. 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.

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