ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.907A>G (p.Ser303Gly) (rs587782391)

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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 RCV000131400 SCV000186376 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000131400 SCV000908782 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-15 criteria provided, single submitter clinical testing
Invitae RCV000549010 SCV000629885 uncertain significance Li-Fraumeni syndrome 2017-04-07 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 303 of the TP53 protein (p.Ser303Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 142332). Experimental studies have shown that this variant outperforms the transactivation activity of the TP53 protein function over the wild-type in yeast-based assays (PMID: 12826609). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760105 SCV000889887 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing

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