ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.464G>C (p.Arg155Thr)

gnomAD frequency: 0.00001  dbSNP: rs778598904
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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 RCV001370363 SCV001566834 uncertain significance Lymphoproliferative syndrome 2 2020-02-07 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CD27-related conditions. This variant is present in population databases (rs778598904, ExAC 0.002%). This sequence change replaces arginine with threonine at codon 155 of the CD27 protein (p.Arg155Thr). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and threonine.

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