ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.448+13C>T

dbSNP: rs1331194353
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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 RCV001919690 SCV002194025 uncertain significance Lymphoproliferative syndrome 2 2023-12-28 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the CD27 gene. It does not directly change the encoded amino acid sequence of the CD27 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CD27-related conditions. ClinVar contains an entry for this variant (Variation ID: 1422728). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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