ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.1051T>C (p.Ser351Pro)

dbSNP: rs1760204380
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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 RCV001345780 SCV001539919 uncertain significance Immunodeficiency 104 2020-05-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with IL7R-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 351 of the IL7R protein (p.Ser351Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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