ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.892G>T (p.Glu298Ter) (rs201744589)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216964 SCV000278127 pathogenic Hereditary cancer-predisposing syndrome 2015-08-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079204 SCV000111074 pathogenic not provided 2012-09-07 criteria provided, single submitter clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785528 SCV000924100 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000559898 SCV000629883 pathogenic Li-Fraumeni syndrome 2017-06-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 298 (p.Glu298*) of 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. This particular variant has been reported in the literature in families affected with soft-tissue sarcoma and Li-Fraumeni syndrome (PMID: 12610779, 21305319). For these reasons, this variant has been classified as Pathogenic.

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