ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.122A>G (p.Gln41Arg)

gnomAD frequency: 0.00002  dbSNP: rs752259578
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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 RCV000705436 SCV000834433 uncertain significance Lymphoproliferative syndrome 2 2021-07-15 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CD27-related disease. This variant is present in population databases (rs752259578, ExAC 0.009%). This sequence change replaces glutamine with arginine at codon 41 of the CD27 protein (p.Gln41Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. 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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