Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011668 | SCV001172016 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-04-17 | criteria provided, single submitter | clinical testing | The p.W485C variant (also known as c.1455G>T), located in coding exon 12 of the CHEK2 gene, results from a G to T substitution at nucleotide position 1455. The tryptophan at codon 485 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |