Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017324 | SCV001178395 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-10-10 | criteria provided, single submitter | clinical testing | The p.P37L variant (also known as c.110C>T), located in coding exon 2 of the ATM gene, results from a C to T substitution at nucleotide position 110. The proline at codon 37 is replaced by leucine, an amino acid with similar properties. This amino acid position is 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. |