ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.268C>T (p.Gln90Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002823885 SCV003195524 pathogenic Hyper-IgM syndrome type 1 2022-05-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CD40LG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln90*) 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).
CeGaT Center for Human Genetics Tuebingen RCV003222445 SCV003917823 pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing CD40LG: PVS1, PM2, PP4

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