ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.245C>G (p.Pro82Arg) (rs534447939)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545821 SCV000629796 uncertain significance Li-Fraumeni syndrome 2017-01-26 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 82 of the TP53 protein (p.Pro82Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. 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. Experimental studies in yeast using site-directed mutagenesis have shown that TP53 proteins with this missense change retains functional transactivation activity (PMID: 12826609). In summary, this variant is a novel missense change that does not appear to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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