ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.520C>T (p.Gln174Ter)

dbSNP: rs1603321772
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805406 SCV000945360 pathogenic Hyper-IgM syndrome type 1 2023-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln174*) in the CD40LG gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 88 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 hyper immunoglobulin M (IgM) syndrome (PMID: 15358621). ClinVar contains an entry for this variant (Variation ID: 650284). 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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