ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)

dbSNP: rs193922135
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029464 SCV000052114 pathogenic Hyper-IgM syndrome type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507366 SCV000602941 pathogenic not specified 2016-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000029464 SCV000893816 pathogenic Hyper-IgM syndrome type 1 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092164 SCV001248545 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Invitae RCV000029464 SCV002236782 pathogenic Hyper-IgM syndrome type 1 2023-05-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 35812). This premature translational stop signal has been observed in individual(s) with X-linked hyper-IgM syndrome (PMID: 9746782, 16169277, 22009004, 30405923). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg11*) 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).
GeneReviews RCV000029464 SCV001364081 not provided Hyper-IgM syndrome type 1 no assertion provided literature only

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