ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.321C>A (p.Tyr107Ter)

dbSNP: rs770776262
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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 RCV000473161 SCV000545347 pathogenic Li-Fraumeni syndrome 2023-05-13 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 25877891, 25927356). This sequence change creates a premature translational stop signal (p.Tyr107*) 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). ClinVar contains an entry for this variant (Variation ID: 406599). For these reasons, this variant has been classified as Pathogenic.

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