ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.709C>T (p.Pro237Ser)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002665098 SCV003539376 uncertain significance Inborn genetic diseases 2021-08-16 criteria provided, single submitter clinical testing The c.709C>T (p.P237S) alteration is located in exon 6 (coding exon 6) of the CD27 gene. This alteration results from a C to T substitution at nucleotide position 709, causing the proline (P) at amino acid position 237 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003108157 SCV003792532 uncertain significance Lymphoproliferative syndrome 2 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 237 of the CD27 protein (p.Pro237Ser). This variant is present in population databases (rs372444145, gnomAD 0.004%). 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: 2213322). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.