ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.439A>C (p.Thr147Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV004720197 SCV005326337 likely pathogenic Hyper-IgM syndrome type 1 criteria provided, single submitter clinical testing The p.Thr147Pro variant is absent from large population studies (gnomAD v2.1.1), the ClinVar database, and the medical literature. The threonine at amino acid position 147 is highly conserved, and most in silico prediction tools suggest that the change to proline is damaging. While the p.Thr147Pro variant appears to be novel, a different missense variant at the same amino acid position has been reported before (p.Thr147Asn, ClinVar Variation ID: 381652; PMID: 20301576, PMID: 9746782, PMID: 34982304). The p.Thr147Asn variant is thought to compromise protein function by an inability to bind to CD40 (PMID: 9746782).

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