ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.721del (p.Ser241fs)

dbSNP: rs2073256180
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231815 SCV001404347 pathogenic Li-Fraumeni syndrome 2022-02-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 958618). This premature translational stop signal has been observed in individual(s) with clinical features of Li-Fraumeni syndrome (PMID: 9723024, 21305319). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser241Profs*6) 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.

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