ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.123T>C (p.Asp41=) (rs369129220)

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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 RCV000162421 SCV000212762 likely benign Hereditary cancer-predisposing syndrome 2014-12-24 criteria provided, single submitter clinical testing
Invitae RCV000525639 SCV000629783 uncertain significance Li-Fraumeni syndrome 2018-12-28 criteria provided, single submitter clinical testing This sequence change affects codon 41 of the TP53 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TP53 protein. This variant is present in population databases (rs369129220, ExAC 0.002%). This variant has not been reported in the literature in individuals with TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 183721). Experimental studies have shown that this silent variant abrogates the interaction between the TP53 mRNA and the HDM2 protein, which is predicted to disrupt the folding of the TP53 mRNA (PMID: 24813712). However, the clinical significance of this observation remains uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, 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 RCV000162421 SCV000686718 likely benign Hereditary cancer-predisposing syndrome 2015-11-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759370 SCV000888660 benign not provided 2017-09-18 criteria provided, single submitter clinical testing

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