ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.59G>A (p.Gly20Glu)

dbSNP: rs1759663249
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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 RCV001223735 SCV001395896 uncertain significance Immunodeficiency 104 2019-05-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 20 of the IL7R protein (p.Gly20Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IL7R-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002562586 SCV003551770 uncertain significance Inborn genetic diseases 2022-09-14 criteria provided, single submitter clinical testing The c.59G>A (p.G20E) alteration is located in exon 1 (coding exon 1) of the IL7R gene. This alteration results from a G to A substitution at nucleotide position 59, causing the glycine (G) at amino acid position 20 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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