ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.947C>T (p.Pro316Leu) (rs1555524979)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633395 SCV000754617 uncertain significance Li-Fraumeni syndrome 2017-12-27 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 316 of the TP53 protein (p.Pro316Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in the germline of 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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