Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003050655 | SCV003445908 | uncertain significance | Hyper-IgM syndrome type 1 | 2022-02-11 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is also known as IVS3-915A>T. This variant has been observed in individual(s) with hyper IgM syndrome (PMID: 14514918). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. 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. |