ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.870_871delinsAC (p.Lys291Gln) (rs1060501205)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471030 SCV000545338 uncertain significance Li-Fraumeni syndrome 2016-06-05 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 291 of the TP53 protein (p.Lys291Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. 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. Experimental studies have shown that this missense change does not reduce the ability of TP53 to induce apoptosis or affect the transcriptional transactivation activity of the TP53 protein (PMID: 15781620, 12826609). In summary, this variant is a novel change that is not predicted to affect protein function. 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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