ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.737G>A (p.Ser246Asn)

dbSNP: rs779397627
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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 RCV001326931 SCV001517985 uncertain significance Immunodeficiency 104 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 246 of the IL7R protein (p.Ser246Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). 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 tolerated. 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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