ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.11C>G (p.Pro4Arg) (rs878854064)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475451 SCV000545310 uncertain significance Li-Fraumeni syndrome 2018-05-15 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 4 of the TP53 protein (p.Pro4Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline 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. An experimental study in yeast has shown that this variant does not impair the transcriptional transactivation activity of the TP53 protein (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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