Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017236 | SCV001178283 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-13 | criteria provided, single submitter | clinical testing | The p.R362G variant (also known as c.1084A>G), located in coding exon 8 of the ATM gene, results from an A to G substitution at nucleotide position 1084. The arginine at codon 362 is replaced by glycine, an amino acid with dissimilar 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. |
Natera, |
RCV001827192 | SCV002092690 | uncertain significance | Ataxia-telangiectasia syndrome | 2020-02-26 | no assertion criteria provided | clinical testing |