ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1180T>A (p.Ter394Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792393 SCV000931689 uncertain significance Li-Fraumeni syndrome 2018-08-15 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the TP53 mRNA. It is expected to extend the length of the TP53 protein by nine additional amino acid residues (p.*394Argext*9). 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted stop signal is currently unknown. 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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