Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692874 | SCV000820721 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343468 | SCV002646973 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-11-13 | criteria provided, single submitter | clinical testing | The c.537G>T variant (also known as p.G179G), located in coding exon 4 of the POLD1 gene, results from a G to T substitution at nucleotide position 537. This nucleotide substitution does not change grantham residue at codon 179. This nucleotide position is poorly conserved in available vertebrate species. Using three different splice site prediction tools, this alteration is predicted by ESEfinder and Human Splicing Finder (HSF) to create a new alternate splice donor site, but BDGP does not predict the creation of a non-native donor site, nor a deleterious effect on splicing; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |