Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023831 | SCV001185760 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-01-11 | criteria provided, single submitter | clinical testing | The p.G176W variant (also known as c.526G>T), located in coding exon 3 of the CHEK2 gene, results from a G to T substitution at nucleotide position 526. The glycine at codon 176 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |