ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.625C>T (p.Pro209Ser)

gnomAD frequency: 0.00001  dbSNP: rs748643880
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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 RCV001973332 SCV002256204 uncertain significance Immunodeficiency 104 2021-08-23 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 209 of the IL7R protein (p.Pro209Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs748643880, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with IL7R-related conditions. 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 expected to disrupt IL7R protein function. 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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