ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.217G>A (p.Val73Met) (rs587782423)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131474 SCV000186461 likely benign Hereditary cancer-predisposing syndrome 2017-05-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Other strong data supporting benign classification,In silico models in agreement (benign),Intact protein function observed in appropriate functional assay(s)
Color RCV000131474 SCV000903922 benign Hereditary cancer-predisposing syndrome 2016-08-08 criteria provided, single submitter clinical testing
Invitae RCV000553568 SCV000629791 uncertain significance Li-Fraumeni syndrome 2018-12-23 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 73 of the TP53 protein (p.Val73Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs587782423, ExAC 0.06%). This variant has not been reported in the literature in individuals with TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 142386). An experimental study in yeast has shown that this variant does not impair the transcriptional transactivation activity of the TP53 protein (PMID: 12826609). 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.

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