ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu)

dbSNP: rs104894778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000011918 SCV000819791 pathogenic Hyper-IgM syndrome type 1 2020-01-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change disrupts CD40LG protein function (PMID: 8094231, 10559240). This variant has been observed in several individuals with X linked hyper-IgM syndrome (XHIM), and has been shown to segregate with disease in one family (PMID: 15623492, 8094231). ClinVar contains an entry for this variant (Variation ID: 11168). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glutamic acid at codon 123 of the CD40LG protein (p.Ala123Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid.
OMIM RCV000011918 SCV000032151 pathogenic Hyper-IgM syndrome type 1 1993-02-11 no assertion criteria provided literature only

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