ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.796G>A (p.Gly266Arg) (rs1057519990)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785497 SCV000924069 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000528667 SCV000629872 uncertain significance Li-Fraumeni syndrome 2017-03-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 266 of the TP53 protein (p.Gly266Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in the germline of individuals with a TP53-related disease. Experimental studies have shown that this missense change leads to a non-functional TP53 protein with loss of promoter transactivation activity (PMID: 20407015, 12826609). In summary, this variant disrupts protein function in vitro. However, it has not been reported in affected individuals. For these reasons, this change has been classified as a Variant of Uncertain Significance.

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