Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018847 | SCV001180133 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-06-28 | criteria provided, single submitter | clinical testing | The p.L303F variant (also known as c.909G>T) is located in coding exon 8 of the CHEK2 gene. The leucine at codon 303 is replaced by phenylalanine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 8. This amino acid position is highly 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. |