ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.1367A>G (p.Tyr456Cys)

dbSNP: rs1580865092
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894848 SCV002136451 uncertain significance Immunodeficiency 104 2021-07-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 456 of the IL7R protein (p.Tyr456Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. 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. 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: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals affected with IL7R-related conditions. This variant is not present in population databases (ExAC no frequency).

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