ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)

gnomAD frequency: 0.00005  dbSNP: rs367970442
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000482379 SCV000289475 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000482379 SCV000572100 likely benign not provided 2019-09-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in individuals with a personal history of endometrial cancer (Wong 2016); This variant is associated with the following publications: (PMID: 26748215, 29056344)
Ambry Genetics RCV000569077 SCV000671399 benign Hereditary cancer-predisposing syndrome 2024-02-28 criteria provided, single submitter clinical testing This alteration is classified as 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.
Counsyl RCV000227270 SCV000784878 uncertain significance Colorectal cancer, susceptibility to, 12 2017-01-25 criteria provided, single submitter clinical testing
Mendelics RCV000709238 SCV000838669 uncertain significance Familial colorectal cancer 2018-07-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797690 SCV002041699 likely benign not specified 2021-11-20 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001797690 SCV004027281 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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