Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023351 | SCV001185215 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-26 | criteria provided, single submitter | clinical testing | The p.I1659R variant (also known as c.4976T>G), located in coding exon 32 of the ATM gene, results from a T to G substitution at nucleotide position 4976. The isoleucine at codon 1659 is replaced by arginine, an amino acid with similar properties. This amino acid position is poorly 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. |