ClinVar Miner

Submissions for variant NM_000878.5(IL2RB):c.194C>T (p.Pro65Leu)

gnomAD frequency: 0.00001  dbSNP: rs371340355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332608 SCV001524983 uncertain significance Immunodeficiency 63 with lymphoproliferation and autoimmunity 2019-12-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546583 SCV003231222 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 65 of the IL2RB protein (p.Pro65Leu). 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: 1030917). This variant has not been reported in the literature in individuals affected with IL2RB-related conditions. This variant is present in population databases (rs371340355, gnomAD 0.01%).

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