ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.1152G>A (p.Met384Ile) (rs1597345344)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792615 SCV000931921 uncertain significance Li-Fraumeni syndrome 2019-01-02 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 384 of the TP53 protein (p.Met384Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. 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 conditions. An experimental study in yeast has shown that this variant does not impair the transcriptional transactivation activity of the TP53 protein (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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