ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.574C>T (p.Gln192Ter) (rs866380588)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472712 SCV000545307 pathogenic Li-Fraumeni syndrome 2018-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln192*) in the TP53 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported as a germline variant in the literature, but has been observed as a somatic variant in multiple tumor samples (PMID: 20436704, 26781615, 22187033, 25122428, 27150160, 22551440). ClinVar contains an entry for this variant (Variation ID: 406579). 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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