ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5895_5896delinsGGAC (p.Glu1966fs)

dbSNP: rs1593712239
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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 RCV001024650 SCV001186702 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-14 criteria provided, single submitter clinical testing The c.5895_5896delAGinsGGAC variant, located in coding exon 43 of the POLE gene, results from the deletion of two nucleotides and insertion of 4 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.E1966Dfs*34). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function via haploinsufficiency in 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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