ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.830G>T (p.Cys277Phe) (rs763098116)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532028 SCV000629875 uncertain significance Li-Fraumeni syndrome 2017-07-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 277 of the TP53 protein (p.Cys277Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is present in population databases (rs763098116, ExAC 0.002%). This variant has not been reported as a germline observation in the literature in individuals with TP53-related disease. Experimental studies have shown that this missense change disrupts the transcriptional transactivation function of TP53 and can interfere with the wild-type TP53 protein activity in vitro (PMID: 12826609, 19850740, 9407971, 26070072). In summary, this variant has shown to affect TP53 protein function. In the absence of additional data, 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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