Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021182 | SCV001182763 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-04 | criteria provided, single submitter | clinical testing | The p.P13S variant (also known as c.37C>T), located in coding exon 2 of the POT1 gene, results from a C to T substitution at nucleotide position 37. The proline at codon 13 is replaced by serine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |