ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1054del (p.Asp352fs)

dbSNP: rs2150994429
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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 RCV002004215 SCV002292555 likely pathogenic Li-Fraumeni syndrome 2021-06-07 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the C-terminal domain of the TP53 protein, which is required for full DNA binding and transactivation activity (PMID: 22178617, 25794615, 26205489). ‚ÄãWhile functional studies have not been performed to directly test the effect of this variant on TP53 protein function, this suggests that disruption of this region of the protein is causative of disease. 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.Asp352Metfs*18) in the TP53 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the TP53 protein.

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