ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.319C>T (p.Arg107Cys)

gnomAD frequency: 0.00005  dbSNP: rs371761387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027557 SCV001190127 pathogenic Combined immunodeficiency 2019-01-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027558 SCV001190128 pathogenic Immunodeficiency 2019-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001230251 SCV001402725 uncertain significance Lymphoproliferative syndrome 2 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 107 of the CD27 protein (p.Arg107Cys). This variant is present in population databases (rs371761387, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of CD27 deficiency (PMID: 25843314, 32499645). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 827695). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CD27 protein function. 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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