Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001190530 | SCV001358034 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001190530 | SCV002733765 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-23 | criteria provided, single submitter | clinical testing | The p.S366C variant (also known as c.1097C>G), located in coding exon 9 of the TP53 gene, results from a C to G substitution at nucleotide position 1097. The serine at codon 366 is replaced by cysteine, an amino acid with dissimilar properties. This variant is reported to have partially functional transactivation in yeast based assays (Kato S et al. Proc. Natl. Acad. Sci. USA. 2003 Jul;100:8424-9). Studies conducted in human cell lines indicate this alteration is proficient at growth suppression and has no dominant negative effect (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. |