ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1129A>G (p.Thr377Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689635 SCV000817296 uncertain significance Li-Fraumeni syndrome 2018-03-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 377 of the TP53 protein (p.Thr377Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. 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 partially impairs 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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