ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6379C>T (p.Arg2127Ter)

dbSNP: rs1057517583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412098 SCV000489059 uncertain significance Colorectal cancer, susceptibility to, 12 2016-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003654256 SCV000653441 pathogenic not provided 2024-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2127*) in the POLE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POLE are known to be pathogenic (PMID: 23230001, 25948378, 30503519). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POLE-related conditions. ClinVar contains an entry for this variant (Variation ID: 371916). For these reasons, this variant has been classified as Pathogenic.

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