ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.676G>A (p.Gly226Arg)

dbSNP: rs1603321840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788160 SCV000927182 likely pathogenic not provided 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV001869202 SCV002232326 uncertain significance Hyper-IgM syndrome type 1 2021-10-15 criteria provided, single submitter clinical testing 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. 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 expected to disrupt CD40LG protein function. ClinVar contains an entry for this variant (Variation ID: 636364). This variant has not been reported in the literature in individuals affected with CD40LG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 226 of the CD40LG protein (p.Gly226Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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