Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| 3billion | RCV002251205 | SCV002521723 | pathogenic | Hyper-IgM syndrome type 1 | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported to be associated with CD40LG related disorder (PMID: 24631270, 24768948 ). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
| Invitae | RCV002251205 | SCV003445200 | pathogenic | Hyper-IgM syndrome type 1 | 2022-02-02 | 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 hyper-IgM syndrome (PMID: 7717401, 24768948). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile53Lysfs*13) 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). |