Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001203125 | SCV001374272 | pathogenic | Hyper-IgM syndrome type 1 | 2019-06-05 | criteria provided, single submitter | clinical testing | This variant disrupts the C-terminus of the CD40LG protein. Other variant(s) that disrupt this region (p.Ser236*) have been observed in individuals with CD40LG-related conditions (PMID: 11158612). This suggests that this may be a clinically significant region of the protein. This sequence change results in a premature translational stop signal in the CD40LG gene (p.Gln232*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acids of the CD40LG protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with X-linked Hyper-IgM Immunodeficiency (PMID: 8550833, 18805740). For these reasons, this variant has been classified as Pathogenic. |