ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.400T>C (p.Phe134Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699849 SCV000828578 uncertain significance Li-Fraumeni syndrome 2018-06-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 134 of the TP53 protein (p.Phe134Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. 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. Experimental studies in yeast have shown that this variant disrupts TP53 protein function (PMID: 12826609, 23897043, 10713666, 16723121). 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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