ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.590C>T (p.Pro197Leu)

gnomAD frequency: 0.00001  dbSNP: rs587778404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037344 SCV001200754 uncertain significance Immunodeficiency 104 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 197 of the IL7R protein (p.Pro197Leu). This variant is present in population databases (rs587778404, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with IL7R-related conditions. ClinVar contains an entry for this variant (Variation ID: 134527). 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.
ITMI RCV000121216 SCV000085387 not provided not specified 2013-09-19 no assertion provided reference population

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