ClinVar Miner

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

dbSNP: rs1601205954
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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 RCV001009982 SCV001170117 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-10 criteria provided, single submitter clinical testing The c.1138-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 9 in the POLD1 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice acceptor site slightly; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002068815 SCV002391715 likely benign Colorectal cancer, susceptibility to, 10 2022-06-07 criteria provided, single submitter clinical testing

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