ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.869G>C (p.Arg290Pro) (rs55819519)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535005 SCV000629881 uncertain significance Li-Fraumeni syndrome 2017-04-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 290 of the TP53 protein (p.Arg290Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TP53-related disease. An experimental study in yeast has shown that this missense variant results in a partially functional TP53 protein that displays selectivity in promoter transactivation activity (PMID: 12826609). The clinical significance of these findings is uncertain. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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