ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.859G>A (p.Glu287Lys) (rs587782006)

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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 RCV000130426 SCV000185290 uncertain significance Hereditary cancer-predisposing syndrome 2013-10-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000813960 SCV000954347 uncertain significance Li-Fraumeni syndrome 2018-12-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 287 of the TP53 protein (p.Glu287Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs587782006, ExAC 0.02%). This variant has not been reported in the literature in individuals with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 141781). 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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