ClinVar Miner

Submissions for variant NM_016123.4(IRAK4):c.655G>T (p.Val219Phe)

dbSNP: rs1941030825
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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 RCV001341675 SCV001535558 uncertain significance Immunodeficiency 67 2022-01-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IRAK4-related conditions. 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1038378). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 219 of the IRAK4 protein (p.Val219Phe).

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