ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.1357T>C (p.Ser453Pro)

gnomAD frequency: 0.00038  dbSNP: rs141919625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640053 SCV000761641 uncertain significance Immunodeficiency 104 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 453 of the IL7R protein (p.Ser453Pro). This variant is present in population databases (rs141919625, gnomAD 0.05%). 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: 134540). 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.
Fulgent Genetics, Fulgent Genetics RCV000640053 SCV000897235 uncertain significance Immunodeficiency 104 2018-10-31 criteria provided, single submitter clinical testing
ITMI RCV000121229 SCV000085400 not provided not specified 2013-09-19 no assertion provided reference population

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