ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.156_157delinsTT (p.Gln52_His53delinsHisTyr)

dbSNP: rs1580851810
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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 RCV000793702 SCV000933068 uncertain significance Immunodeficiency 104 2022-09-07 criteria provided, single submitter clinical testing This variant, c.156_157delinsTT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the IL7R protein (p.Gln52_His53delinsHisTyr). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with IL7R-related conditions. ClinVar contains an entry for this variant (Variation ID: 640639). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV003166108 SCV003914975 uncertain significance not provided 2022-10-06 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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