ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.388C>G (p.Leu130Val) (rs863224683)

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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 RCV000565366 SCV000672400 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000536061 SCV000629818 uncertain significance Li-Fraumeni syndrome 2017-05-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 130 of the TP53 protein (p.Leu130Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a TP53-related disease. Experimental studies have shown that this missense change reduces the ability of p53 to transactivate downstream target genes (PMID: 20407015, 12826609). In summary, this variant has uncertain impact on TP53 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759374 SCV000888665 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing

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