ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.912C>T (p.Gly304=) (rs1064794932)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657133 SCV000570248 uncertain significance not provided 2018-02-12 criteria provided, single submitter clinical testing This variant is denoted POLE c.912C>T at the DNA level. This variant is silent at the coding level, preserving a Glycine at codon 304. While one computational model predicts no change in the natural splice acceptor site, additional in silico splicing models are uninformative. In the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. POLE c.912C>T was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available information, it is unclear whether POLE c.912C>T is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000482319 SCV000602104 uncertain significance not specified 2017-03-30 criteria provided, single submitter clinical testing
Invitae RCV001085432 SCV000653494 likely benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575110 SCV000671546 likely benign Hereditary cancer-predisposing syndrome 2016-02-08 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000657133 SCV001148907 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing

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.