ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.239dup (p.His80fs)

gnomAD frequency: 0.00001  dbSNP: rs748418658
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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 RCV000701415 SCV000830216 pathogenic Lymphoproliferative syndrome 2 2023-06-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs748418658, gnomAD 0.004%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 578414). This variant has not been reported in the literature in individuals affected with CD27-related conditions. This sequence change creates a premature translational stop signal (p.His80Glnfs*3) 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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