ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.3219-4G>A

gnomAD frequency: 0.00002  dbSNP: rs756232002
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087830 SCV000287617 likely benign Colorectal cancer, susceptibility to, 10 2023-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000828251 SCV000969935 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019297 SCV001180633 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-26 criteria provided, single submitter clinical testing The c.3219-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 26 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 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267988 SCV002551998 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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