ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.122T>C (p.Leu41Pro)

dbSNP: rs2148550578
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001372922 SCV001569617 uncertain significance Hyper-IgM syndrome type 1 2020-03-17 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CD40LG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 41 of the CD40LG protein (p.Leu41Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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