ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.711del (p.Met237fs)

dbSNP: rs1597365138
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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 RCV000821784 SCV000962553 pathogenic Li-Fraumeni syndrome 2018-11-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 disease. This sequence change creates a premature translational stop signal (p.Met237Ilefs*10) in the TP53 gene. It is expected to result in an absent or disrupted protein product.

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