ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2090C>G (p.Pro697Arg) (rs36120395)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000657066 SCV000289287 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000657066 SCV000293173 uncertain significance not provided 2017-12-15 criteria provided, single submitter clinical testing This variant is denoted POLE c.2090C>G at the cDNA level, p.Pro697Arg (P697R) at the protein level, and results in the change of a Proline to an Arginine (CCC>CGC). This variant was identified in at least two individuals with a personal and/or family history of cancer (Cabanillas 2017, Mandelker 2017). POLE Pro697Arg was observed at an allele frequency of 0.15% (190/125,844) in individuals of European ancestry in large population cohorts (Lek 2016). This variant is located in the polymerase domain (Preston 2010). In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on currently available evidence, it is unclear whether POLE Pro697Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000235798 SCV000540090 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant not in HGMD, conflicting classifications in ClinVar. MaxMAF = 0.13%. AA not conserved but Arg not in any species.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000235798 SCV000601995 uncertain significance not specified 2017-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565117 SCV000671278 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000657066 SCV000806739 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Mendelics RCV000709270 SCV000838701 uncertain significance Familial colorectal cancer 2018-07-02 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000565117 SCV000788165 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-30 no assertion criteria provided clinical testing

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