ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.289G>T (p.Val97Phe) (rs730882023)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545045 SCV000629799 uncertain significance Li-Fraumeni syndrome 2017-03-06 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 97 of the TP53 protein (p.Val97Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in the germline of individuals with a TP53-related disease. An experimental study using yeast-based assays has shown that this missense change does not affect the transcriptional transactivation activity of the TP53 protein (PMID: 12826609). In summary, this variant is a novel missense change that does not affect the functional activity of the TP53 protein. 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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