ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.871A>G (p.Lys291Glu) (rs1555525126)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575139 SCV000664928 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-16 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000806261 SCV000946250 uncertain significance Li-Fraumeni syndrome 2018-11-21 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 291 of the TP53 protein (p.Lys291Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. 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. ClinVar contains an entry for this variant (Variation ID: 480951). 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, 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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