ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.325T>A (p.Phe109Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV003387704 SCV004098979 likely pathogenic Li-Fraumeni syndrome 2023-10-26 criteria provided, single submitter clinical testing The following ACMG criteria is used: PM2_Supporting (not reported in gnomAD), PS3 (PMID: 12826609; 30224644; PS4_Supporting (two probands meeting revised Chompret criteria = 1 point). Moreover, the variant is reported as likely pathogenic using multifactorial modelling (PMID: 34273903)
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697289 SCV005198847 likely pathogenic not provided 2023-09-14 criteria provided, single submitter clinical testing

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