ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.373A>G (p.Thr125Ala)

gnomAD frequency: 0.00006  dbSNP: rs145407742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066215 SCV001231220 uncertain significance Immunodeficiency 104 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 125 of the IL7R protein (p.Thr125Ala). This variant is present in population databases (rs145407742, gnomAD 0.03%). 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: 859986). 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. 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.
CeGaT Center for Human Genetics Tuebingen RCV001531414 SCV001746495 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001066215 SCV003920066 uncertain significance Immunodeficiency 104 2021-03-30 criteria provided, single submitter clinical testing IL7R: NM_002185 exon3 p.Thr125Ala (c.373A>G): This variant has not been reported in the literature but is present in 7/23984 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs145407742). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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