Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011858 | SCV001172232 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-11-22 | criteria provided, single submitter | clinical testing | The p.P498L variant (also known as c.1493C>T), located in coding exon 11 of the NBN gene, results from a C to T substitution at nucleotide position 1493. The proline at codon 498 is replaced by leucine, 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. |