ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.850A>T (p.Thr284Ser) (rs1204379654)

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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 RCV000563243 SCV000664425 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000563243 SCV000691658 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-30 criteria provided, single submitter clinical testing
Invitae RCV000546011 SCV000629879 uncertain significance Li-Fraumeni syndrome 2017-07-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 284 of the TP53 protein (p.Thr284Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with colon cancer (PMID: 26086041). An experimental study in yeast has shown that this missense change does not affect TP53 transactivation activity (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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