ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.208C>G (p.Gln70Glu)

dbSNP: rs2148551102
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001907736 SCV002129992 uncertain significance Hyper-IgM syndrome type 1 2021-06-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 70 of the CD40LG protein (p.Gln70Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CD40LG-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CD40LG protein function. 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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