Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001012018 | SCV001172417 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-12-05 | criteria provided, single submitter | clinical testing | The p.G509E variant (also known as c.1526G>A), located in coding exon 9 of the ATM gene, results from a G to A substitution at nucleotide position 1526. The glycine at codon 509 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not 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. |
Color Diagnostics, |
RCV001012018 | SCV001340373 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-01-16 | criteria provided, single submitter | clinical testing |