Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016901 | SCV001177906 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-10-05 | criteria provided, single submitter | clinical testing | The p.L969P variant (also known as c.2906T>C), located in coding exon 18 of the ATM gene, results from a T to C substitution at nucleotide position 2906. The leucine at codon 969 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |