ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.644G>T (p.Gly215Val) (rs193922645)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030065 SCV000052720 likely pathogenic Severe combined immunodeficiency disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
GeneDx RCV000485085 SCV000565074 likely pathogenic not provided 2015-11-23 criteria provided, single submitter clinical testing The G215V variant in the IL7R gene has been previously published in association with SCID (Lebet et al., 2008; Kwan et al., 2013). The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G215V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position in the Fibronectin type-III domain that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (S218N, W220C) have been reported in the Human Gene Mutation Database in association with SCID (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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