ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1097C>G (p.Ser366Cys)

dbSNP: rs2072905459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health 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.

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