ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.1079G>A (p.Gly360Glu) (rs35993958)

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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 RCV000213880 SCV000273804 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-15 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000541338 SCV000629770 uncertain significance Li-Fraumeni syndrome 2019-11-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 360 of the TP53 protein (p.Gly360Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 230306). An experimental study in yeast has shown that this variant partially impairs 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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