Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000645923 | SCV000767678 | likely benign | Colorectal cancer, susceptibility to, 10 | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002369715 | SCV002690612 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-01-06 | criteria provided, single submitter | clinical testing | The c.971-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 8 in the POLD1 gene. This nucleotide position is poorly conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by ESEfinder to slightly weaken the efficiency of the native splice acceptor site, but is not predicted to have a deleterious effect on this splice acceptor site by BDGP or HSF; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |