ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.4543_4546delinsTCC (p.Leu1515fs)

dbSNP: rs1593733478
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022676 SCV001184436 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-05 criteria provided, single submitter clinical testing The c.4543_4546delCTGGinsTCC variant, located in coding exon 35 of the POLE gene, results from the deletion of 4 nucleotides and insertion of 3 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.L1515Sfs*47). This alteration is expected to result in loss of function by 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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