ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.752T>A (p.Ile251Asn) (rs730882027)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633360 SCV000754582 uncertain significance Li-Fraumeni syndrome 2017-08-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with asparagine at codon 251 of the TP53 protein (p.Ile251Asn). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related disease. An experimental study has shown that this missense change disrupts TP53 transactivational activity in yeast (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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