ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3629dup (p.Pro1210_Asp1211insTer)

dbSNP: rs1555224111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662864 SCV000785749 uncertain significance Colorectal cancer, susceptibility to, 12 2017-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003656650 SCV001516808 pathogenic not provided 2024-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1211*) 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: 548812). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002458177 SCV002615944 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-04 criteria provided, single submitter clinical testing The c.3629dupC variant, located in coding exon 30 of the POLE gene, results from a duplication of C at nucleotide position 3629, causing a translational frameshift with a predicted alternate stop codon (p.D1211*). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of POLE has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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