Submissions for variant NM_002185.5(IL7R):c.714G>A (p.Met238Ile)

dbSNP: rs1057520828

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000442979	SCV000518286	likely benign	not specified	2015-07-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001232591	SCV001405155	uncertain significance	Immunodeficiency 104	2019-09-10	criteria provided, single submitter	clinical testing	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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IL7R-related conditions. ClinVar contains an entry for this variant (Variation ID: 380338). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 238 of the IL7R protein (p.Met238Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine.