ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.505TAT[1] (p.Tyr170del)

dbSNP: rs1603321765
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Total submissions: 1
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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.

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