Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382556 | SCV001581396 | pathogenic | Hyper-IgM syndrome type 1 | 2021-04-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 8550833, 9746782). This variant has been observed in individual(s) with hyper IgM syndrome (PMID: 8550833, 9746782). This variant is also known as c.367+5G>A in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 3 of the CD40LG gene. It does not directly change the encoded amino acid sequence of the CD40LG protein, but it affects a nucleotide within the consensus splice site of the intron. |
Ce |
RCV002070254 | SCV002498171 | likely pathogenic | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing |