ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.479del (p.Met160fs)

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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 RCV003655793 SCV004427704 pathogenic Lymphoproliferative syndrome 2 2022-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CD27-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met160Serfs*35) 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).

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