Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003306420 | SCV004004029 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-23 | criteria provided, single submitter | clinical testing | The p.G681R variant (also known as c.2041G>C) is located in coding exon 12 of the DICER1 gene. The glycine at codon 681 is replaced by arginine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 12. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |