ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.908G>A (p.Ser303Asn) (rs876658714)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218916 SCV000274335 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Intact protein function observed in appropriate functional assay(s),In silico models in agreement (benign)
Invitae RCV000700080 SCV000828820 uncertain significance Li-Fraumeni syndrome 2018-06-01 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 303 of the TP53 protein (p.Ser303Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 230695). 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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