Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004561471 | SCV005049215 | uncertain significance | Dyskeratosis congenita | 2023-12-16 | criteria provided, single submitter | clinical testing | The p.A1049P variant (also known as c.3145G>C), located in coding exon 14 of the TERT gene, results from a G to C substitution at nucleotide position 3145. The alanine at codon 1049 is replaced by proline, an amino acid with highly similar properties. This amino acid position is conserved. 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. |