ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.321C>A (p.Tyr107Ter) (rs770776262)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473161 SCV000545347 pathogenic Li-Fraumeni syndrome 2016-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 107 (p.Tyr107*) of the TP53 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in TP53 are known to be pathogenic. This particular truncation has been reported in the literature in an individual affected with breast cancer (PMID: 25877891). A different sequence change c.320dupA giving rise to the same protein effect observed here (p.Tyr107*) has been reported in an individual affected with breast cancer (PMID: 25927356). For these reasons, this variant has been classified as Pathogenic.

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