Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003512468 | SCV004328219 | pathogenic | Hyper-IgM syndrome type 1 | 2023-09-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His47Ilefs*7) in the CD40LG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CD40LG are known to be pathogenic (PMID: 15319456). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CD40LG-related conditions. For these reasons, this variant has been classified as Pathogenic. |