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 likely benign Hereditary cancer-predisposing syndrome 2019-09-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics,PreventionGenetics RCV000249541 SCV000305111 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000463320 SCV000545334 uncertain significance Li-Fraumeni syndrome 2020-05-05 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 observed in individuals affected with breast and/or ovarian cancer (PMID: 28724667, 29470806) and an individual with prostate and gallbladder cancer (PMID: 30093976). ClinVar contains an entry for this variant (Variation ID: 230534). This variant has been reported not to substantially affect TP53 protein function (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.
Color Health, Inc RCV000219841 SCV000904076 likely benign Hereditary cancer-predisposing syndrome 2020-07-13 criteria provided, single submitter clinical testing

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