ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.375+4_375+5dup (rs1555526467)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554959 SCV000629811 uncertain significance Li-Fraumeni syndrome 2017-06-11 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the TP53 gene. It does not directly change the encoded amino acid sequence of the TP53 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a TP53-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is may affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on TP53 function. 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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