ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.441T>A (p.Tyr147Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002734801 SCV003006241 pathogenic Lymphoproliferative syndrome 2 2021-07-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr147*) in the CD27 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CD27 are known to be pathogenic (PMID: 25843314). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CD27-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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