Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813133 | SCV000953476 | uncertain significance | Hyper-IgM syndrome type 1 | 2018-09-11 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant, c.508_510delTAT, results in the deletion of 1 amino acid of the CD40LG protein (p.Tyr170del), but otherwise preserves the integrity of the reading frame. This variant has been observed in an individual with symptoms consistent with X-linked hyper-IgM immunodeficiency (Invitae). 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. |