ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.2016G>A (p.Arg672=)

gnomAD frequency: 0.00003  dbSNP: rs991583405
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000484122 SCV000556328 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000484122 SCV000572679 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing This variant is denoted POLE c.2016G>A at the DNA level. This variant is silent at the coding level, preserving an Arginine at codon 672. It is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. POLE c.2016G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The nucleotide which is altered, a guanine (G) at base 2016, is conserved in mammals. Based on currently available evidence, it is unclear whether POLE c.2016G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV002418448 SCV002724343 likely benign Hereditary cancer-predisposing syndrome 2018-08-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.