ClinVar Miner

Submissions for variant NM_001250.6(CD40):c.381C>T (p.Pro127=)

gnomAD frequency: 0.00007  dbSNP: rs763263083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589953 SCV000697792 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768171 SCV000898581 uncertain significance Hyper-IgM syndrome type 3 2021-03-30 criteria provided, single submitter clinical testing CD40 NM_001250 exon 4 p.Pro127Pro (c.381C>T): This variant has not been reported in the literature but is present in 3/18864 East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs763263083). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV002061976 SCV002437108 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing

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