ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.1246C>A (p.Pro416Thr)

dbSNP: rs2149906130
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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 RCV001907884 SCV002131181 uncertain significance Immunodeficiency 104 2021-09-20 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IL7R protein function. This variant has not been reported in the literature in individuals affected with IL7R-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 416 of the IL7R protein (p.Pro416Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine.

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