ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6135C>T (p.Pro2045=)

gnomAD frequency: 0.00004  dbSNP: rs368662693
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712373 SCV000522133 likely benign not provided 2020-01-10 criteria provided, single submitter clinical testing
Invitae RCV001712373 SCV000544196 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565715 SCV000671490 likely benign Hereditary cancer-predisposing syndrome 2016-02-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000439221 SCV000712575 uncertain significance not specified 2016-11-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro2045Pro va riant in POLE has not been previously reported in individuals with colorectal ca ncer but has been identified in 5/8596 of East Asian chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs368662693). This variant is located in the last three bases of the exon, which is part of th e 5? splice region. Computational tools do not suggest an impact to splicing. Ho wever, this information is not predictive enough to rule out pathogenicity. In s ummary, the clinical significance of the p.Pro2045Pro variant is uncertain altho ugh it is suspected to be more likely benign.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000439221 SCV004027293 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000565715 SCV000788188 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-29 no assertion criteria provided clinical testing

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