ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2388+3G>A

gnomAD frequency: 0.00001  dbSNP: rs765678563
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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 RCV001015366 SCV001176191 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing The c.2388+3G>A intronic variant results from a G to A substitution 3 nucleotides after coding exon 18 in the POLD1 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 donor site; 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 RCV001042983 SCV001206693 likely benign Colorectal cancer, susceptibility to, 10 2024-10-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819726 SCV002068885 uncertain significance not specified 2018-04-03 criteria provided, single submitter clinical testing

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