ClinVar Miner

Submissions for variant NM_000074.2(CD40LG):c.632C>A (p.Thr211Asn) (rs1569377829)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781200 SCV000919086 likely pathogenic X-linked hyper-IgM syndrome 2018-02-20 criteria provided, single submitter clinical testing Variant summary: CD40LG c.632C>A (p.Thr211Asn) results in a non-conservative amino acid change located in the Tumor necrosis factor domain (IPR006052) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 87498 control chromosomes in ExAC, however these data do not allow any conclusion about variant significance. c.632C>A has been reported in the literature in one individual affected with Hyper IgM Syndrome Type 1 (Allen 1993). At least one publication reports experimental evidence evaluating an impact on protein function (Allen 1993). The most pronounced variant effect results in <10% of normal activity. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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