ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2251-5C>T

gnomAD frequency: 0.00001  dbSNP: rs1236954722
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562022 SCV000671163 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-14 criteria provided, single submitter clinical testing The c.2251-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 18 in the POLD1 gene. This nucleotide position is conserved on limited sequence alignment. 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 RCV000645943 SCV000767698 likely benign Colorectal cancer, susceptibility to, 10 2023-12-25 criteria provided, single submitter clinical testing
GeneDx RCV003228961 SCV003926098 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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