ClinVar Miner

Submissions for variant NM_000074.2(CD40LG):c.368C>A (p.Ala123Glu) (rs104894778)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000011918 SCV000819791 pathogenic X-linked hyper-IgM syndrome 2018-06-05 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). 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). Experimental studies have shown that this missense change disrupts CD40LG protein function (PMID: 8094231, 10559240). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011918 SCV000032151 pathogenic X-linked hyper-IgM syndrome 1993-02-11 no assertion criteria provided literature only

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