ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1073A>T (p.Glu358Val) (rs773553186)

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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 RCV000219841 SCV000274118 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000219841 SCV000904076 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-08 criteria provided, single submitter clinical testing
Invitae RCV000463320 SCV000545334 uncertain significance Li-Fraumeni syndrome 2018-06-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 358 of the TP53 protein (p.Glu358Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is present in population databases (rs773553186, ExAC 0.006%). This variant has been reported in individuals affected with breast cancer (PMID: 28724667). ClinVar contains an entry for this variant (Variation ID: 230534). An experimental study in yeast has shown that this variant does not impair the transcriptional transactivation activity of the TP53 protein (PMID: 12826609). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
PreventionGenetics RCV000249541 SCV000305111 likely benign not specified criteria provided, single submitter clinical testing

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