ClinVar Miner

Submissions for variant NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr)

gnomAD frequency: 0.00001  dbSNP: rs778820674
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Immunogenetics Laboratory, Johns Hopkins All Children's Hospital RCV000662349 SCV000778467 likely pathogenic Pancytopenia due to IKZF1 mutations 2018-06-12 criteria provided, single submitter clinical testing The patient is a 15 years old male with a history of chronic refractory thrombocytopenia diagnosed at age of 6. He had episodes of low platelet count with diffuse petechiae and mucosal bleeding. He has normal T cell and B cell numbers, and normal immunoglobulin levels. However, he has increased double negative T cells (CD3+/CD4- CD8-).
Genetic Services Laboratory, University of Chicago RCV001816662 SCV002069467 uncertain significance not specified 2018-08-03 criteria provided, single submitter clinical testing
Invitae RCV003708545 SCV004480306 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 272 of the IKZF1 protein (p.Ala272Thr). This variant is present in population databases (rs778820674, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with IKZF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 548705). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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