Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000011912 | SCV000891219 | likely pathogenic | Hyper-IgM syndrome type 1 | 2018-08-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000011912 | SCV001372829 | pathogenic | Hyper-IgM syndrome type 1 | 2022-02-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CD40LG function (PMID: 10559240). 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: 11162). This missense change has been observed in individual(s) with X-linked hyper-IgM syndrome (PMID: 7679206, 15358621). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 36 of the CD40LG protein (p.Met36Arg). |
OMIM | RCV000011912 | SCV000032145 | pathogenic | Hyper-IgM syndrome type 1 | 1993-02-11 | no assertion criteria provided | literature only |