ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.892G>A (p.Glu298Lys) (rs201744589)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130033 SCV000184859 likely benign Hereditary cancer-predisposing syndrome 2018-04-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Counsyl RCV000411322 SCV000488500 uncertain significance Li-Fraumeni syndrome 1 2016-04-14 criteria provided, single submitter clinical testing
Invitae RCV000206802 SCV000260657 uncertain significance Li-Fraumeni syndrome 2018-10-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 298 of the TP53 protein (p.Glu298Lys). 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 (rs201744589, ExAC 0.009%). This variant has been reported in an individuals affected with leukemia (PMID:  21747090). However, it is unclear if this variant emerged at relapse diagnosis or not. ClinVar contains an entry for this variant (Variation ID: 141483). 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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