ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1138-5C>A

dbSNP: rs1374129343
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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 RCV000571811 SCV000671073 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-15 criteria provided, single submitter clinical testing The c.1138-5C>A intronic variant results from a C to A substitution 5 nucleotides upstream from coding exon 9 in the POLD1 gene. This nucleotide position is well conserved on limited nucleotide alignment. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice acceptor site, and is predicted to weaken (but not abolish) the efficiency of the native splice acceptor site by ESEfinder; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001209065 SCV001380484 likely benign Colorectal cancer, susceptibility to, 10 2023-12-30 criteria provided, single submitter clinical testing

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