ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.589G>T (p.Val197Leu) (rs786204041)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198322 SCV000254633 uncertain significance Li-Fraumeni syndrome 2018-09-16 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 197 of the TP53 protein (p.Val197Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with suspected Li-Fraumeni syndrome (PMID: 18511570). Experimental studies have shown that this missense change reduces p53 transcriptional activity in yeast and acts as a temperature-sensitive mutant in a glioblastoma cell line, but the clinical significance of these findings is unclear (PMID: 12826609, 11668476). 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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