Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003066381 | SCV003445784 | pathogenic | Hyper-IgM syndrome type 1 | 2022-03-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of CD40LG-related conditions (PMID: 15358621, 32888943). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln70*) 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). |