Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001026142 | SCV001188464 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-06-29 | criteria provided, single submitter | clinical testing | The p.R240K variant (also known as c.719G>A), located in coding exon 5 of the CHEK2 gene, results from a G to A substitution at nucleotide position 719. The arginine at codon 240 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is well 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. |