ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.590T>A (p.Val197Glu) (rs1567551903)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811803 SCV000952090 uncertain significance Li-Fraumeni syndrome 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces valine with glutamic acid at codon 197 of the TP53 protein (p.Val197Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with squamous-cell carcinoma (PMID: 10389749). Experimental studies in yeast have shown that this variant impairs the transcriptional transactivation activity of the TP53 protein (PMID: 12826609, 21343334). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785480 SCV000924052 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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