Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010112 | SCV001170260 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The p.P390T variant (also known as c.1168C>A), located in coding exon 10 of the TP53 gene, results from a C to A substitution at nucleotide position 1168. The proline at codon 390 is replaced by threonine, an amino acid with highly similar properties. This variant is reported to have partial loss of transactivation in yeast based assays (IARC TP53 database: Kato S et al. Proc. Natl. Acad. Sci. USA 2003 Jul;100:8424-9). Studies conducted in human cell lines indicate this alteration remains proficient at growth suppression (Giacomelli AO et al. Nat. Genet. 2018 Oct;50:1381-1387). 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. |