ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.156+2T>C

dbSNP: rs2148550585
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001895461 SCV002156142 pathogenic Hyper-IgM syndrome type 1 2021-03-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 1 of the CD40LG gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CD40LG are known to be pathogenic (PMID: 15319456). This variant has been observed in individual(s) with hyper IgM syndrome (PMID: 19575287, 31117086). This variant is also known as IVS1+2T>C. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies.

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