Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000574029 | SCV000661780 | uncertain significance | Hereditary cancer-predisposing syndrome | 2016-12-21 | criteria provided, single submitter | clinical testing | The p.D293V variant (also known as c.878A>T), located in coding exon 7 of the CHEK2 gene, results from an A to T substitution at nucleotide position 878. The aspartic acid at codon 293 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is not well 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. |