ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.908T>C (p.Phe303Ser)

gnomAD frequency: 0.00004  dbSNP: rs200107390
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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 RCV001301105 SCV001490265 uncertain significance Immunodeficiency 104 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 303 of the IL7R protein (p.Phe303Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs200107390, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with IL7R-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 disruptive. 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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