ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.346+5G>A

dbSNP: rs2148552412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382556 SCV001581396 pathogenic Hyper-IgM syndrome type 1 2021-04-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 8550833, 9746782). This variant has been observed in individual(s) with hyper IgM syndrome (PMID: 8550833, 9746782). This variant is also known as c.367+5G>A in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 3 of the CD40LG gene. It does not directly change the encoded amino acid sequence of the CD40LG protein, but it affects a nucleotide within the consensus splice site of the intron.
CeGaT Center for Human Genetics Tuebingen RCV002070254 SCV002498171 likely pathogenic not provided 2022-01-01 criteria provided, single submitter clinical testing

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