Submissions for variant NM_000546.6(TP53):c.27C>A (p.Ser9Arg)

dbSNP: rs757282628

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001016637	SCV001177610	uncertain significance	Hereditary cancer-predisposing syndrome	2018-05-10	criteria provided, single submitter	clinical testing	The p.S9R variant (also known as c.27C>A), located in coding exon 1 of the TP53 gene, results from a C to A substitution at nucleotide position 27. The serine at codon 9 is replaced by arginine, an amino acid with dissimilar properties. This variant is reported to have normal transactivation capacity in yeast based assays (IARC TP53 database; Kato S et al. Proc. Natl. Acad. Sci. USA. 2003 Jul;100:8424-9).This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health	RCV001016637	SCV001355578	uncertain significance	Hereditary cancer-predisposing syndrome	2019-04-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001016637	SCV002582183	uncertain significance	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002290531	SCV002582746	uncertain significance	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing