ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.863del (p.Asn288fs)

dbSNP: rs2151015077
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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 RCV001893366 SCV002167239 pathogenic Li-Fraumeni syndrome 2021-07-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn288Ilefs*57) in the TP53 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). For these reasons, this variant has been classified as Pathogenic. 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).

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