ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.766A>C (p.Thr256Pro) (rs587781433)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633389 SCV000754611 uncertain significance Li-Fraumeni syndrome 2017-11-22 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 256 of the TP53 protein (p.Thr256Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in an individual affected with osteosarcoma (PMID: 25512523). An experimental study in yeast has shown that this variant impairs 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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