ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.538C>T (p.His180Tyr)

gnomAD frequency: 0.00003  dbSNP: rs780435478
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065316 SCV001230272 uncertain significance Immunodeficiency 104 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 180 of the IL7R protein (p.His180Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs780435478, ExAC 0.003%). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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