ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.158_161del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251205 SCV002521723 pathogenic Hyper-IgM syndrome type 1 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported to be associated with CD40LG related disorder (PMID: 24631270, 24768948 ). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Invitae RCV002251205 SCV003445200 pathogenic Hyper-IgM syndrome type 1 2022-02-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with hyper-IgM syndrome (PMID: 7717401, 24768948). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile53Lysfs*13) in the CD40LG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CD40LG are known to be pathogenic (PMID: 15319456).

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