Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030060 | SCV000052715 | likely pathogenic | Severe combined immunodeficiency disease | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely pathogenic. |
Invitae | RCV003514302 | SCV004316571 | pathogenic | Immunodeficiency 104 | 2023-09-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile94Asnfs*38) 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 not present in population databases (gnomAD no frequency). 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: 36391). For these reasons, this variant has been classified as Pathogenic. |