ClinVar Miner

Submissions for variant NM_016123.4(IRAK4):c.832G>A (p.Asp278Asn)

gnomAD frequency: 0.00001  dbSNP: rs757311009
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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 RCV001970412 SCV002255499 uncertain significance Immunodeficiency 67 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 278 of the IRAK4 protein (p.Asp278Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs757311009, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with IRAK4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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