Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571811 | SCV000671073 | uncertain significance | Hereditary cancer-predisposing syndrome | 2016-12-15 | criteria provided, single submitter | clinical testing | The c.1138-5C>A intronic variant results from a C to A substitution 5 nucleotides upstream from coding exon 9 in the POLD1 gene. This nucleotide position is well conserved on limited nucleotide alignment. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice acceptor site, and is predicted to weaken (but not abolish) the efficiency of the native splice acceptor site by ESEfinder; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001209065 | SCV001380484 | likely benign | Colorectal cancer, susceptibility to, 10 | 2023-12-30 | criteria provided, single submitter | clinical testing |