ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.853_856del (p.Glu285fs)

dbSNP: rs2073186772
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054016 SCV001218309 pathogenic Li-Fraumeni syndrome 2019-02-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This variant has not been reported in the literature in individuals with TP53-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu285Lysfs*59) in the TP53 gene. It is expected to result in an absent or disrupted protein product.

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