Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000685846 | SCV000813345 | pathogenic | Hyper-IgM syndrome type 1 | 2020-09-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys102Glufs*7) in the CD40LG gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CD40LG-related conditions. ClinVar contains an entry for this variant (Variation ID: 566114). Loss-of-function variants in CD40LG are known to be pathogenic (PMID: 15319456). For these reasons, this variant has been classified as Pathogenic. |