ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.1256T>C (p.Phe419Ser)

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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 RCV003060571 SCV003449696 uncertain significance Immunodeficiency 104 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 419 of the IL7R protein (p.Phe419Ser). This variant is present in population databases (rs149195024, gnomAD 0.004%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV003058961 SCV003528322 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.1256T>C (p.F419S) alteration is located in exon 8 (coding exon 8) of the IL7R gene. This alteration results from a T to C substitution at nucleotide position 1256, causing the phenylalanine (F) at amino acid position 419 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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