ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1081G>C (p.Gly361Arg) (rs1555524361)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571168 SCV000664435 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-25 criteria provided, single submitter clinical testing
Color RCV000571168 SCV000913103 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000633398 SCV000754620 uncertain significance Li-Fraumeni syndrome 2017-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 361 of the TP53 protein (p.Gly361Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related disease. Experimental studies have shown that this missense change partially disrupts the ability of p53 to bind to DNA and consequently to transactivate the downstream genes (PMID: 12826609). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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