ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.598A>T (p.Arg200Ter)

dbSNP: rs2148553738
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001925891 SCV002180807 pathogenic Hyper-IgM syndrome type 1 2021-09-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CD40LG protein in which other variant(s) (p.Gln232*) have been determined to be pathogenic (PMID: 8550833, 18805740). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with X-linked hyper-IgM syndrome (PMID: 8550833). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg200*) in the CD40LG gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 62 amino acid(s) of the CD40LG protein.

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