Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022576 | SCV001184330 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-28 | criteria provided, single submitter | clinical testing | The p.Q1500E variant (also known as c.4498C>G), located in coding exon 29 of the ATM gene, results from a C to G substitution at nucleotide position 4498. The glutamine at codon 1500 is replaced by glutamic acid, an amino acid with highly 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. |