ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.1022G>A (p.Gly341Glu)

gnomAD frequency: 0.00014  dbSNP: rs753614229
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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 RCV001248520 SCV001422014 uncertain significance Immunodeficiency 104 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 341 of the IL7R protein (p.Gly341Glu). This variant is present in population databases (rs753614229, gnomAD 0.04%). 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: 972480). 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.
Ambry Genetics RCV003246817 SCV003937765 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.1022G>A (p.G341E) alteration is located in exon 8 (coding exon 8) of the IL7R gene. This alteration results from a G to A substitution at nucleotide position 1022, causing the glycine (G) at amino acid position 341 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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