ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.892del (p.Glu298fs)

dbSNP: rs2073177507
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV002290668 SCV002583004 likely pathogenic Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290669 SCV002582342 likely pathogenic Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001880046 SCV002237645 pathogenic Li-Fraumeni syndrome 2021-06-14 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 982969). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu298Serfs*47) 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).
Institute of Human Genetics, University of Leipzig Medical Center RCV001262727 SCV001440701 likely pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing

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