ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.250G>A (p.Ala84Thr) (rs587781307)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129026 SCV000172931 uncertain significance Hereditary cancer-predisposing syndrome 2013-01-21 criteria provided, single submitter clinical testing
Color RCV000129026 SCV000908798 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-13 criteria provided, single submitter clinical testing
Counsyl RCV000409852 SCV000489003 uncertain significance Li-Fraumeni syndrome 1 2016-08-05 criteria provided, single submitter clinical testing
Invitae RCV000462026 SCV000545271 uncertain significance Li-Fraumeni syndrome 2018-03-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 84 of the TP53 protein (p.Ala84Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 140833). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759372 SCV000888663 uncertain significance not provided 2018-08-13 criteria provided, single submitter clinical testing

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