ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter)

dbSNP: rs2076127276
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226556 SCV001398876 pathogenic Hyper-IgM syndrome type 1 2021-02-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the CD40LG protein. Other variant(s) that disrupt this region (p.Gln232*) have been determined to be pathogenic (PMID: 8550833,18805740). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individuals affected with X-linked hyper IgM deficiency (PMID: 9746782, 20591076). This variant is also known as 577C>T in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the CD40LG gene (p.Gln186*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 76 amino acids of the CD40LG protein.

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