ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1160del (p.Thr387fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821697 SCV000962466 uncertain significance Li-Fraumeni syndrome 2018-08-31 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the TP53 gene (p.Thr387Lysfs*35). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acids of the TP53 protein and extend the protein by an additional 27 amino acids. 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 affected amino acid(s) 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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