ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.996C>G (p.Ile332Met) (rs1555524470)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554410 SCV000629897 uncertain significance Li-Fraumeni syndrome 2017-03-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 332 of the TP53 protein (p.Ile332Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with adrenocortical carcinoma (PMID: 22170717). Experimental studies have shown that this missense change does not impact oligomerization ability, but partially disrupts transactivation activity (PMID: 12826609, 16007150). In summary, this variant is a rare missense change with a partial disruption of TP53 protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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