ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.559del (p.Ala187fs)

dbSNP: rs1556143529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622392 SCV000741965 pathogenic Inborn genetic diseases 2017-05-22 criteria provided, single submitter clinical testing
Invitae RCV003512068 SCV004299000 pathogenic Hyper-IgM syndrome type 1 2023-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala187Leufs*4) in the CD40LG gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acid(s) of the CD40LG protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of X-linked hyper-IgM syndrome (PMID: 15358621, 35753512). This variant is also known as 580DelG . ClinVar contains an entry for this variant (Variation ID: 521393). This variant disrupts a region of the CD40LG protein in which other variant(s) (p.Gly257Asp) have been determined to be pathogenic (PMID: 10366125; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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