ClinVar Miner

Submissions for variant NM_000417.3(IL2RA):c.45G>A (p.Met15Ile)

gnomAD frequency: 0.00001  dbSNP: rs74162092
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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 RCV001872097 SCV002120533 uncertain significance Immunodeficiency due to CD25 deficiency 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 15 of the IL2RA protein (p.Met15Ile). This variant is present in population databases (rs74162092, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with IL2RA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1358813). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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