ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.254del (p.Pro85fs)

dbSNP: rs1064793279
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486807 SCV000565621 pathogenic not provided 2020-12-11 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001856820 SCV002124085 pathogenic Li-Fraumeni syndrome 2021-08-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Pro85Leufs*38) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 418516).
Genome-Nilou Lab RCV002289622 SCV002582621 pathogenic Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002289621 SCV002583183 pathogenic Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing

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