ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.4953-4G>A

gnomAD frequency: 0.00001  dbSNP: rs1431909132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023314 SCV001185173 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-30 criteria provided, single submitter clinical testing The c.4953-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 38 in the POLE gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003657641 SCV002347319 likely benign not provided 2021-08-24 criteria provided, single submitter clinical testing

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