ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.537_542del (p.Glu179_Gln180del)

dbSNP: rs1593085033
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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 RCV001023987 SCV001185936 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-10 criteria provided, single submitter clinical testing The c.537_542delGCAGGA variant (also known as p.E179_Q180del) is located in coding exon 6 of the POLE gene. This variant results from an in-frame deletion of 6 nucleotides at positions 537 to 542. This results in the deletion of 2 amino acids between codons 179 and 180. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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