Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226556 | SCV001398876 | pathogenic | Hyper-IgM syndrome type 1 | 2021-02-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the CD40LG protein. Other variant(s) that disrupt this region (p.Gln232*) have been determined to be pathogenic (PMID: 8550833,18805740). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individuals affected with X-linked hyper IgM deficiency (PMID: 9746782, 20591076). This variant is also known as 577C>T in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the CD40LG gene (p.Gln186*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 76 amino acids of the CD40LG protein. |