ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1045G>C (p.Glu349Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814404 SCV000954813 uncertain significance Li-Fraumeni syndrome 2018-07-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 349 of the TP53 protein (p.Glu349Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. 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 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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