ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.154del (p.Asp52fs)

dbSNP: rs781593353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091138 SCV001247009 likely pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769019 SCV004676809 pathogenic Lymphoproliferative syndrome 2 2022-11-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 871276). This variant has not been reported in the literature in individuals affected with CD27-related conditions. This variant is present in population databases (rs781593353, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Asp52Thrfs*77) 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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