ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.37G>A (p.Gly13Arg)

dbSNP: rs146726863
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062830 SCV001227653 uncertain significance Lymphoproliferative syndrome 2 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 13 of the CD27 protein (p.Gly13Arg). This variant is present in population databases (rs146726863, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. 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: 857202). 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. 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.
Genetic Services Laboratory, University of Chicago RCV001819788 SCV002071265 uncertain significance not specified 2021-11-19 criteria provided, single submitter clinical testing DNA sequence analysis of the CD27 gene demonstrated a sequence change, c.37G>A, in exon 1 that results in an amino acid change, p.Gly13Arg. This sequence change does not appear to have been previously described in individuals with CD27-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.13% in the South Asian subpopulation (dbSNP rs146726863). The p.Gly13Arg change affects a highly conserved amino acid residue located in a domain of the CD27 protein that is known to be functional. The p.Gly13Arg substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidence and the lack of functional studies, the clinical significance of the p.Gly13Arg change remains unknown at this time.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264170 SCV002543351 uncertain significance Autoinflammatory syndrome 2018-11-01 criteria provided, single submitter clinical testing

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