ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.875A>G (p.Lys292Arg) (rs121912663)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457955 SCV000545302 uncertain significance Li-Fraumeni syndrome 2016-10-10 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 292 of the TP53 protein (p.Lys292Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. 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 performed in yeast indicate that this missense change does not impact protein transcriptional activity (PMID: 12826609) In summary, this variant is a novel missense change that has been shown not 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.
Ambry Genetics RCV000573281 SCV000664424 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-29 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign)
Color RCV000573281 SCV000910134 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-31 criteria provided, single submitter clinical testing

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