ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.154C>T (p.Gln52Ter)

dbSNP: rs2151042795
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001958596 SCV002230866 pathogenic Li-Fraumeni syndrome 2024-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln52*) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with lung cancer (PMID: 30032850). ClinVar contains an entry for this variant (Variation ID: 1455400). For these reasons, this variant has been classified as Pathogenic.
Sema4, Sema4 RCV002258341 SCV002530427 pathogenic Hereditary cancer-predisposing syndrome 2022-03-16 criteria provided, single submitter curation
Genome-Nilou Lab RCV002258341 SCV002582628 pathogenic Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290817 SCV002583190 pathogenic Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing

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