Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029464 | SCV000052114 | pathogenic | Hyper-IgM syndrome type 1 | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Pathogenic. |
ARUP Laboratories, |
RCV000507366 | SCV000602941 | pathogenic | not specified | 2016-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000029464 | SCV000893816 | pathogenic | Hyper-IgM syndrome type 1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001092164 | SCV001248545 | pathogenic | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000029464 | SCV002236782 | pathogenic | Hyper-IgM syndrome type 1 | 2023-05-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 35812). This premature translational stop signal has been observed in individual(s) with X-linked hyper-IgM syndrome (PMID: 9746782, 16169277, 22009004, 30405923). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg11*) 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). |
Gene |
RCV000029464 | SCV001364081 | not provided | Hyper-IgM syndrome type 1 | no assertion provided | literature only |