ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.692C>T (p.Thr231Ile) (rs1555525564)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552433 SCV000629854 uncertain significance Li-Fraumeni syndrome 2017-01-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 231 of the TP53 protein (p.Thr231Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TP53-related disease. An experimental study using a yeast-based functional assay has shown that this missense change does not affect the transcriptional transactivation activity of the TP53 protein (PMID: 12826609). In summary, this variant is a novel missense change that does not affect protein function in an in vitro assay. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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