ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.1323G>A (p.Pro441=) (rs116573514)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079663 SCV000289250 benign Colorectal cancer, susceptibility to, 12 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000422545 SCV000517992 benign not specified 2018-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000422545 SCV000601974 benign not specified 2016-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570202 SCV000671236 benign Hereditary cancer-predisposing syndrome 2015-07-02 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Integrated Genetics/Laboratory Corporation of America RCV000586478 SCV000698660 benign not provided 2017-07-28 criteria provided, single submitter clinical testing Variant summary: The POLE c.1323G>A (p.Pro441Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 424/121124 control chromosomes (15 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.047923 (413/8618). This frequency is about 3374 times the estimated maximal expected allele frequency of a pathogenic POLE variant (0.0000142), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
PreventionGenetics,PreventionGenetics RCV000422545 SCV000806714 benign not specified 2017-07-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586478 SCV000888492 benign not provided 2016-07-07 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000570202 SCV000805293 likely benign Hereditary cancer-predisposing syndrome 2018-05-01 no assertion criteria provided clinical testing

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