ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.534G>A (p.Trp178Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005035616 SCV005671187 likely pathogenic Immunodeficiency 104 2024-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005035616 SCV005715872 pathogenic Immunodeficiency 104 2024-02-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp178*) in the IL7R gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IL7R are known to be pathogenic (PMID: 21664875, 26123418). This variant is present in population databases (rs754827305, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with IL7R-related conditions. For these reasons, this variant has been classified as Pathogenic.

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