Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000565624 | SCV000661793 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-04-19 | criteria provided, single submitter | clinical testing | The p.S398F variant (also known as c.1193C>T), located in coding exon 10 of the CHEK2 gene, results from a C to T substitution at nucleotide position 1193. The serine at codon 398 is replaced by phenylalanine, an amino acid with highly dissimilar 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. |