ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.719C>T (p.Pro240Leu)

dbSNP: rs1760154761
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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 RCV001226281 SCV001398589 uncertain significance Immunodeficiency 104 2022-09-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 240 of the IL7R protein (p.Pro240Leu). This variant has not been reported in the literature in individuals affected with IL7R-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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 953916).

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