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

gnomAD frequency: 0.00001  dbSNP: rs1236954722

Total submissions: 3

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000645943	SCV000767698	likely benign	Colorectal cancer, susceptibility to, 10	2025-01-13	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