Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000574081 | SCV000673326 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-09-20 | criteria provided, single submitter | clinical testing | The p.L309R variant (also known as c.926T>G), located in coding exon 9 of the FANCC gene, results from a T to G substitution at nucleotide position 926. The leucine at codon 309 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |