ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.212C>G (p.Pro71Arg) (rs878854065)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230713 SCV000285177 uncertain significance Li-Fraumeni syndrome 2017-06-06 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 71 of the TP53 protein (p.Pro71Arg). 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) and has not been reported in the literature in individuals with a TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 237943). Experimental studies have shown that this missense change impairs binding of TP53 to its co-repressor Sin3, which may reduce TP53 protein stability (PMID: 11359905).  Studies are conflicting regarding the effect of this variant on TP53 transactivation: one study indicates that it has no effect, while another suggests that it partially reduces TP53 function (PMID: 11359905, 12826609). The clinical significance of these findings is unknown. In summary, this is a novel missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.

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