ClinVar Miner

Submissions for variant NM_000417.3(IL2RA):c.125A>G (p.Lys42Arg)

gnomAD frequency: 0.00017  dbSNP: rs142016545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321225 SCV001512047 uncertain significance Immunodeficiency due to CD25 deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 42 of the IL2RA protein (p.Lys42Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs142016545, ExAC 0.06%). This variant has not been reported in the literature in individuals affected with IL2RA-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 create or strengthen a 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.
Fulgent Genetics, Fulgent Genetics RCV002476506 SCV002799774 uncertain significance Type 1 diabetes mellitus 10; Immunodeficiency due to CD25 deficiency 2022-04-05 criteria provided, single submitter clinical testing

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