ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.208T>C (p.Ser70Pro)

gnomAD frequency: 0.00003  dbSNP: rs868070072
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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 RCV002016460 SCV002298067 uncertain significance Lymphoproliferative syndrome 2 2021-07-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CD27-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 70 of the CD27 protein (p.Ser70Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline.

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