ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.772A>T (p.Ile258Phe)

gnomAD frequency: 0.00006  dbSNP: rs200150755
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788441 SCV000927556 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001045493 SCV001209348 uncertain significance Immunodeficiency 104 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 258 of the IL7R protein (p.Ile258Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is present in population databases (rs200150755, ExAC 0.006%). This variant has not been reported in the literature in individuals affected 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: "Possibly 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.

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