ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1474-13G>A

dbSNP: rs1555228383
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663065 SCV000786128 likely benign Colorectal cancer, susceptibility to, 12 2018-03-01 criteria provided, single submitter clinical testing
GeneDx RCV001565685 SCV001789079 likely benign not provided 2020-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001565685 SCV003283623 likely benign not provided 2024-11-06 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357850 SCV001553439 likely benign Polymerase proofreading-related adenomatous polyposis no assertion criteria provided clinical testing The POLE c.1474-13G>A variant was not identified in the literature nor was it identified in the dbSNP database. The variant was only identified in ClinVar (classified as likely benign by Counsyl). The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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