ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.763G>C (p.Glu255Gln)

gnomAD frequency: 0.00004  dbSNP: rs766655010
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299632 SCV001488734 uncertain significance Lymphoproliferative syndrome 2 2022-11-28 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. ClinVar contains an entry for this variant (Variation ID: 1003118). This variant has not been reported in the literature in individuals affected with CD27-related conditions. This variant is present in population databases (rs766655010, gnomAD 0.1%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 255 of the CD27 protein (p.Glu255Gln).
Ambry Genetics RCV003365308 SCV004064783 uncertain significance Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing The c.763G>C (p.E255Q) alteration is located in exon 6 (coding exon 6) of the CD27 gene. This alteration results from a G to C substitution at nucleotide position 763, causing the glutamic acid (E) at amino acid position 255 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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