ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.608G>C (p.Arg203Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070826 SCV001236099 uncertain significance X-linked hyper-IgM syndrome 2019-04-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 203 of the CD40LG protein (p.Arg203Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with hyper immunoglobulin M syndrome (PMID: 27324886). This variant has been reported to affect CD40LG protein function (PMID: 27324886). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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