ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.79C>A (p.Pro27Thr) (rs922736614)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468603 SCV000545349 uncertain significance Li-Fraumeni syndrome 2017-07-24 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 27 of the TP53 protein (p.Pro27Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. 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. ClinVar contains an entry for this variant (Variation ID: 406600). Experimental studies have shown that this variant does not affect transactivational activity of the TP53 protein in yeast-based assays (PMID: 12826609). In summary, this variant is a novel missense change that does not affect protein function in vitro. 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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