ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.812_815dup (p.Arg273fs)

dbSNP: rs1597362004
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813368 SCV000953726 pathogenic Li-Fraumeni syndrome 2019-03-25 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.Arg273Glyfs*34) in the TP53 gene. It is expected to result in an absent or disrupted protein product.

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