ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.439G>A (p.Val147Ile) (rs1555526226)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633361 SCV000754583 uncertain significance Li-Fraumeni syndrome 2017-12-29 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 147 of the TP53 protein (p.Val147Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. 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. An experimental study using yeast-based assays has shown that this variant has a small effect on the transcriptional 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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