ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.520A>G (p.Arg174Gly) (rs864622115)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205095 SCV000259377 uncertain significance Li-Fraumeni syndrome 2015-07-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 174 of the TP53 protein (p.Arg174Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant has been reported in a patient with glioblastoma multiforme and breast cancer (PMID: 8308926) as well as an affected individual from a family with Li Fraumeni-like Syndrome (PMID: 17606709) and is not present in population databases. Experimental studies in yeast have shown that this missense change disrupts TP53 transcriptional activity at some, but not all promoters. The clinical significance of these findings is unclear (PMID: 17606709, 21343334, 12826609). In summary, this is a rare missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.

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